C3497T

# **General Information**

| **Position** | **3497** | **Variant** | **m.3497C\>T** | **Locus** | **MT\-ND1** | **Amino\-AcidChange** | **A64V** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Likely\-benign | **Pathogenicity** | Reported / Secondary |

"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.3497C\>T** variant in MT\-ND1 has been reported in 1 pedigree. To date, 6 carriers have been reported. Homoplasmy was reported in 6/6 carriers (100%), and 6/6 carriers (100%) were affected. The main clinical manifestations among affected carriers included LHON, visual acuity left 0\.01 right 0\.02, visual acuity left 0\.03 right 0\.05, visual acuity left 0\.05 right 0\.09, visual acuity left 0\.06 right 0\.01, visual acuity left 0\.12 right 0\.8, and visual acuity left 0\.6 right 0\.4\.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3497 | m.3497C\>T | [C3497T\-F1](https://mitofam.com/doc/1399/) | China | LHON | 15 | 7 | 2012 | [22553750](https://pubmed.ncbi.nlm.nih.gov/22553750/) | Carrying G11778A and C3571T. |

# **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 | 3497 | m.3497C\>T | C3497T\-F1 | C3497T\-F1\-III2 | Fam | F | N | Y | A | 24 | Homo | / | / | / | LHON; visual acuity left 0\.12 right 0\.8 | Carrying G11778A and C3571T. |
| 2 | 3497 | m.3497C\>T | C3497T\-F1 | C3497T\-F1\-III4 | Fam | F | N | Y | A | 43 | Homo | / | / | / | LHON; visual acuity left 0\.6 right 0\.4 | Carrying G11778A and C3571T. |
| 3 | 3497 | m.3497C\>T | C3497T\-F1 | C3497T\-F1\-III5 | Fam | M | N | Y | A | 15 | Homo | / | / | / | LHON; visual acuity left 0\.01 right 0\.02 | Carrying G11778A and C3571T. |
| 4 | 3497 | m.3497C\>T | C3497T\-F1 | C3497T\-F1\-III8 | Fam | F | N | Y | A | 30 | Homo | / | / | / | LHON; visual acuity left 0\.05 right 0\.09 | Carrying G11778A and C3571T. |
| 5 | 3497 | m.3497C\>T | C3497T\-F1 | C3497T\-F1\-III10 | Fam | F | N | Y | A | 19 | Homo | / | / | / | LHON; visual acuity left 0\.03 right 0\.05 | Carrying G11778A and C3571T. |
| 6 | 3497 | m.3497C\>T | C3497T\-F1 | C3497T\-F1\-IV13 | Fam | M | Y | Y | A | 18 | Homo | / | / | / | LHON; visual acuity left 0\.06 right 0\.01 | Carrying G11778A and C3571T. |

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