T12015C

# **General Information**

| **Position** | **12015** | **Variant** | **m.12015T\>C** | **Locus** | **MT\-ND4** | **Amino\-AcidChange** | **L419P** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-benign | **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.12015T\>C** variant in MT\-ND4 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 12% to 15%, with a median of 13\.5% overall; affected carriers showed mutation loads from 12% to 15%, with a median of 13\.5%. The main clinical manifestations among affected carriers included APS2, mELAS\-like disease, continuous headache, dysexecutive syndrome, epileptic seizures, muscular fatigue, and stroke\-like episodes with right hemiparesis.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12015 | m.12015T\>C | T12015C\-F1 | Germany | MELAS | 0 | 0 | 2019 | [30949164](https://pubmed.ncbi.nlm.nih.gov/30949164/) |  |

# **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 | 12015 | m.12015T\>C | T12015C\-F1 | T12015C\-F1\-P1 | Uninf | F | Y | Y | A | 25 | 12% | 15% | / | / | MELAS\-like disease; dysexecutive syndrome; muscular fatigue; continuous headache; epileptic seizures; stroke\-like episodes with right hemiparesis; APS2 |  |

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