C3761A

# **General Information**

| **Position** | **3761** | **Variant** | **m.3761C\>A** | **Locus** | **MT\-ND1** | **Amino\-AcidChange** | **S152Term** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | NA | **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.3761C\>A** variant in MT\-ND1 has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 5% to 80%, with a median of 36\.5% overall; affected carriers showed mutation loads from 12% to 80%, with a median of 40\.5%; unaffected carriers showed mutation loads from 5% to 38%, with a median of 21\.5%. In one unaffected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in urine (38%) than in blood (5%). In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (80%), urine (46%), and bone marrow (35%) than in blood (12%). The main clinical manifestations among affected carriers included hearing impairment and gestational diabetes.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3761 | m.3761C\>A | C3761A\-F1 | UK | Hearing impairment, gestational diabetes | 1 | 0 | 2020 | [32158465](https://pubmed.ncbi.nlm.nih.gov/32158465/) |  |

# **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 | 3761 | m.3761C\>A | C3761A\-F1 | C3761A\-F1\-I2 | Uninf | F | N | N | A | ND | 5% | / | 38% | / | healthy |  |
| 2 | 3761 | m.3761C\>A | C3761A\-F1 | C3761A\-F1\-II1 | Fam | F | Y | Y | A | 44 | 12% | 80% | 46% | 35% (BM) | Hearing impairment, gestational diabetes |  |

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