T10652C

# **General Information**

| **Position** | **10652** | **Variant** | **m.10652T\>C** | **Locus** | **MT\-ND4L** | **Amino\-AcidChange** | **I61I** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | NA | **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.10652T\>C** variant in MT\-ND4L has been reported in 3 pedigrees. To date, 3 carriers have been reported. Mutation\-load data were not available. The main clinical manifestations among affected carriers included schizophrenia and major depressive disorder.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 10652 | m.10652T\>C | T10652C\-F1 | United States | Major depressive disorder | ND | ND | 2009 | [19290059](https://pubmed.ncbi.nlm.nih.gov/19290059/) |  |
| 2 | 10652 | m.10652T\>C | T10652C\-F2 | United States | Schizophrenia | ND | ND | 2009 | [19290059](https://pubmed.ncbi.nlm.nih.gov/19290059/) |  |
| 3 | 10652 | m.10652T\>C | T10652C\-F3 | United States | Schizophrenia | ND | ND | 2009 | [19290059](https://pubmed.ncbi.nlm.nih.gov/19290059/) |  |

# **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 | 10652 | m.10652T\>C | T10652C\-F1 | T10652C\-F1\-P1 | Uninf | ND | Y | Y | D | ND | / | / | / | \+ | Major depressive disorder |  |
| 2 | 10652 | m.10652T\>C | T10652C\-F2 | T10652C\-F2\-P1 | Uninf | ND | Y | Y | D | ND | / | / | / | \+ | Schizophrenia |  |
| 3 | 10652 | m.10652T\>C | T10652C\-F3 | T10652C\-F3\-P1 | Uninf | ND | Y | Y | D | ND | / | / | / | \+ | Schizophrenia |  |

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