T3472C

# General Information

| **Position** | **3472** | **Variant** | **m.3472T\>C** | **Locus** | **MT\-ND1** | **Amino\-AcidChange** | **F56L** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **APOGEE2** | VUS\- | **Pathogenicity** | Reported |

"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.3472T\>C** variant in MT\-ND1 has been reported in 2 pedigrees. To date, 4 carriers have been reported. Homoplasmy was reported in 4/4 carriers (100%), and 2/4 carriers (50%) were affected. The main clinical manifestations among affected carriers included LHON.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3472 | m.3472T\>C | [T3472C\-F1](https://mitofam.com/doc/1483/) | Russia | LHON | 1 | 0 | 2016 | [27449621](https://pubmed.ncbi.nlm.nih.gov/27449621/) |  |
| 2 | 3472 | m.3472T\>C | [T3472C\-F2](https://mitofam.com/doc/1484/) | Spain | LHON | 1 | 0 | 2014 | [24800637](https://pubmed.ncbi.nlm.nih.gov/24800637/) |  |

# 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 | 3472 | m.3472T\>C | T3472C\-F1 | T3472C\-F1\-II1 | Fam | M | Y | Y | A | 19 | Homo | / | / | / | LHON |  |
| 2 | 3472 | m.3472T\>C | T3472C\-F1 | T3472C\-F1\-II2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 3 | 3472 | m.3472T\>C | T3472C\-F2 | T3472C\-F2\-I1 | Uninf | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 4 | 3472 | m.3472T\>C | T3472C\-F2 | T3472C\-F2\-II1 | Fam | M | Y | Y | A | 40 | Homo | / | / | / | LHON |  |

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