T3394C

# **General Information**

| **Position** | **3394** | **Variant** | **m.3394T\>C** | **Locus** | **MT\-ND1** | **Amino\-AcidChange** | **Y30H** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | VUS\+ | **Pathogenicity** | Reported \[VUS] \-population dependent; hg M9 marker |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.3394T\>C** variant in MT\-ND1 has been reported in 9 pedigrees. To date, 25 carriers have been reported. Homoplasmy was reported in 25/25 carriers (100%), and 25/25 carriers (100%) were affected. The main clinical manifestations among affected carriers included LHON, T2DM, mild visual impairment, lHON\-plus with olivocerebellar degeneration, optic neuropathy, bilateral hearing loss, cerebellar ataxia, chronic kidney disease, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3394 | m.3394T\>C | [T3394C\-F1](https://mitofam.com/doc/1470/) | Japan | LHON\-plus / olivocerebellar degeneration | 0 | 2 | 2012 | [23091534](https://pubmed.ncbi.nlm.nih.gov/23091534/) | Carrying G11778A: blood 92% in III\-1 and 70% in II\-2\. |
| 2 | 3394 | m.3394T\>C |[ T3394C\-F2](https://mitofam.com/doc/1471/) | China | LHON | 5 | 2 | 2010 | [20728388](https://pubmed.ncbi.nlm.nih.gov/20728388/) | Carrying G11778A; haplogroup M9a; pedigree WZ102 |
| 3 | 3394 | m.3394T\>C | [T3394C\-F3](https://mitofam.com/doc/1472/) | China | LHON | 5 | 2 | 2010 | [20728388](https://pubmed.ncbi.nlm.nih.gov/20728388/) | Carrying G11778A; haplogroup M9a; pedigree WZ103 |
| 4 | 3394 | m.3394T\>C | [T3394C\-F4](https://mitofam.com/doc/1473/) | China | LHON | 5 | 3 | 2010 | [20728388](https://pubmed.ncbi.nlm.nih.gov/20728388/) | Carrying G11778A; haplogroup M9a; pedigree WZ104 |
| 5 | 3394 | m.3394T\>C | [T3394C\-F5 ](https://mitofam.com/doc/1474/)| China | LHON | 4 | 4 | 2010 | [20728388](https://pubmed.ncbi.nlm.nih.gov/20728388/) | Carrying G11778A; haplogroup M9a; pedigree WZ105 |
| 6 | 3394 | m.3394T\>C | [T3394C\-F6 ](https://mitofam.com/doc/1475/)| China | T2DM | 9 | 3 | 2021 | [33840063](https://pubmed.ncbi.nlm.nih.gov/33840063/) | Carrying A14693G; haplogroup Y2; pedigree 1; exclude non\-maternal III2 |
| 7 | 3394 | m.3394T\>C |[ T3394C\-F7 ](https://mitofam.com/doc/1476/)| China | T2DM | 6 | 1 | 2021 | [33840063](https://pubmed.ncbi.nlm.nih.gov/33840063/) | haplogroup M9a; pedigree 2 |
| 8 | 3394 | m.3394T\>C | [T3394C\-F8 ](https://mitofam.com/doc/1477/)| China | LHON | 8 | 0 | 2019 | [30597069](https://pubmed.ncbi.nlm.nih.gov/30597069/) | pedigree WZ234; haplogroup M9a1 |
| 9 | 3394 | m.3394T\>C | [T3394C\-F9](https://mitofam.com/doc/1478/) | China | LHON | 7 | 5 | 2019 | [30597069](https://pubmed.ncbi.nlm.nih.gov/30597069/) | pedigree WZ337; haplogroup M9a; Carrying G11778A |

# **Carrier Information**

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3394 | m.3394T\>C | T3394C\-F1 | T3394C\-F1\-II2 | Fam | F | N | Y | A | ND | Homo | / | / | / | Optic neuropathy; mild optic nerve, pons and cerebellum atrophy; no LHON\-plus symptoms | Carrying G11778A (blood 70%). |
| 2 | 3394 | m.3394T\>C | T3394C\-F1 | T3394C\-F1\-III1 | Fam | M | Y | Y | A | 37 | Homo | / | / | / | LHON\-plus with olivocerebellar degeneration, cerebellar ataxia, gaze palsy and dysarthria | Carrying G11778A (blood 92%). |
| 3 | 3394 | m.3394T\>C | T3394C\-F2 | T3394C\-F2\-II1 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON | Carrying G11778A; haplogroup M9a; pedigree WZ102 |
| 4 | 3394 | m.3394T\>C | T3394C\-F2 | T3394C\-F2\-II5 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON | Carrying G11778A; haplogroup M9a; pedigree WZ102 |
| 5 | 3394 | m.3394T\>C | T3394C\-F2 | T3394C\-F2\-II7 | Fam | M | Y | Y | A | 40 | Homo | / | / | / | LHON | Carrying G11778A; haplogroup M9a; pedigree WZ102 |
| 6 | 3394 | m.3394T\>C | T3394C\-F3 | T3394C\-F3\-II5 | Fam | M | N | Y | A | 20 | Homo | / | / | / | LHON | Carrying G11778A; haplogroup M9a; pedigree WZ103 |
| 7 | 3394 | m.3394T\>C | T3394C\-F3 | T3394C\-F3\-III1 | Fam | M | N | Y | A | 16 | Homo | / | / | / | LHON | Carrying G11778A; haplogroup M9a; pedigree WZ103 |
| 8 | 3394 | m.3394T\>C | T3394C\-F3 | T3394C\-F3\-III3 | Fam | M | Y | Y | A | 17 | Homo | / | / | / | LHON | Carrying G11778A; haplogroup M9a; pedigree WZ103 |
| 9 | 3394 | m.3394T\>C | T3394C\-F4 | T3394C\-F4\-II1 | Fam | M | N | Y | A | 20 | Homo | / | / | / | LHON | Carrying G11778A; haplogroup M9a; pedigree WZ104 |
| 10 | 3394 | m.3394T\>C | T3394C\-F4 | T3394C\-F4\-II5 | Fam | M | N | Y | A | 25 | Homo | / | / | / | LHON | Carrying G11778A; haplogroup M9a; pedigree WZ104 |
| 11 | 3394 | m.3394T\>C | T3394C\-F4 | T3394C\-F4\-II10 | Fam | F | N | Y | A | 28 | Homo | / | / | / | LHON | Carrying G11778A; haplogroup M9a; pedigree WZ104 |
| 12 | 3394 | m.3394T\>C | T3394C\-F4 | T3394C\-F4\-III6 | Fam | M | Y | Y | A | 17 | Homo | / | / | / | LHON | Carrying G11778A; haplogroup M9a; pedigree WZ104 |
| 13 | 3394 | m.3394T\>C | T3394C\-F5 | T3394C\-F5\-I2 | Uninf | F | N | Y | A | ND | Homo | / | / | / | LHON | Carrying G11778A; haplogroup M9a; pedigree WZ105 |
| 14 | 3394 | m.3394T\>C | T3394C\-F5 | T3394C\-F5\-II2 | Fam | F | N | Y | A | ND | Homo | / | / | / | LHON | Carrying G11778A; haplogroup M9a; pedigree WZ105 |
| 15 | 3394 | m.3394T\>C | T3394C\-F5 | T3394C\-F5\-II3 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON | Carrying G11778A; haplogroup M9a; pedigree WZ105 |
| 16 | 3394 | m.3394T\>C | T3394C\-F5 | T3394C\-F5\-II6 | Fam | F | N | Y | A | ND | Homo | / | / | / | LHON | Carrying G11778A; haplogroup M9a; pedigree WZ105 |
| 17 | 3394 | m.3394T\>C | T3394C\-F5 | T3394C\-F5\-III2 | Fam | M | Y | Y | A | 14 | Homo | / | / | / | LHON | Carrying G11778A; haplogroup M9a; pedigree WZ105 |
| 18 | 3394 | m.3394T\>C | T3394C\-F6 | T3394C\-F6\-I2 | Uninf | F | N | Y | A | 85 | Homo | / | / | / | T2DM, profound hearing loss, severe visual impairment, hypertension, chronic kidney disease | Carrying A14693G; haplogroup Y2 |
| 19 | 3394 | m.3394T\>C | T3394C\-F6 | T3394C\-F6\-II2 | Fam | F | N | Y | A | 60 | Homo | / | / | / | T2DM, mild hearing impairment, mild visual impairment, kidney and liver functional injury | Carrying A14693G; haplogroup Y2 |
| 20 | 3394 | m.3394T\>C | T3394C\-F6 | T3394C\-F6\-III1 | Fam | M | Y | Y | A | 33 | Homo | / | / | / | T2DM | Carrying A14693G; haplogroup Y2 |
| 21 | 3394 | m.3394T\>C | T3394C\-F6 | T3394C\-F6\-III6 | Fam | F | N | Y | A | 30 | Homo | / | / | / | T2DM | Carrying A14693G; haplogroup Y2 |
| 22 | 3394 | m.3394T\>C | T3394C\-F7 | T3394C\-F7\-II10 | Uninf | F | Y | Y | A | 66 | Homo | / | / | / | T2DM, high blood pressure, bilateral hearing loss, moderate visual impairment | haplogroup M9a |
| 23 | 3394 | m.3394T\>C | T3394C\-F7 | T3394C\-F7\-III5 | Fam | M | N | Y | A | 40 | Homo | / | / | / | T2DM, mild visual impairment | haplogroup M9a |
| 24 | 3394 | m.3394T\>C | T3394C\-F8 | T3394C\-F8\-IV3 | Fam | M | Y | Y | A | 34 | / | / | / | Homo (Lymphoblastoid cells/cybrids) | LHON | haplogroup M9a1; pedigree WZ234 |
| 25 | 3394 | m.3394T\>C | T3394C\-F9 | T3394C\-F9\-III7 | Fam | M | Y | Y | A | 29 | / | / | / | Homo (Lymphoblastoid cells/cybrids) | LHON | Carrying G11778A; haplogroup M9a; pedigree WZ337 |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).