T3685C

# **General Information**

| **Position** | **3685** | **Variant** | **m.3685T\>C** | **Locus** | **MT\-ND1** | **Amino\-AcidChange** | **Y127H** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-pathogenic | **Pathogenicity** | Reported \[VUS] |

"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.3685T\>C** variant in MT\-ND1 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 62\.3% to 63\.1%, with a median of 62\.7% overall; affected carriers showed mutation loads from 62\.3% to 63\.1%, with a median of 62\.7%. The main clinical manifestations among affected carriers included leigh syndrome.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3685 | m.3685T\>C | T3685C\-F1 | USA | Leigh syndrome | 0 | 0 | 2022 | [35217561](https://pubmed.ncbi.nlm.nih.gov/35217561/) |  |

# **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 | 3685 | m.3685T\>C | T3685C\-F1 | T3685C\-F1\-I1 | De novo | F | Y | Y | A | 4 | 62\.3\-63\.1% | / | / | / | Leigh syndrome | Mother and two siblings negative. |

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