T13376C

# **General Information**

| **Position** | **13376** | **Variant** | **m.13376T\>C** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **I347T** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Likely\-pathogenic | **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.13376T\>C** variant in MT\-ND5 has been reported in 1 pedigree. To date, 2 carriers have been reported. Homoplasmy was reported in 2/2 carriers (100%), and 2/2 carriers (100%) were affected. The main clinical manifestations among affected carriers included mELAS with recurrent headache, MRI., short stature, diabetes, elevated lactate after exercise, exercise\-induced lactic acidosis, medial temporal lobe atrophy, normal neurological exam, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13376 | m.13376T\>C | [T13376C\-F1](https://mitofam.com/doc/1388/) | Japan | MELAS | 0 | 1 | 2020 | [31689606](https://pubmed.ncbi.nlm.nih.gov/31689606/) | Japanese MELAS m.13376T\>C family; pages 1,3; Japan; Japanese MELAS case report. |

# **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 | 13376 | m.13376T\>C | T13376C\-F1 | T13376C\-F1\-II1 | Fam | F | Y | Y | A | 25 years | Homo | 99\.9% | / | 99\.9%(H) | MELAS with recurrent headache; diabetes; seizure/stroke\-like episode; exercise\-induced lactic acidosis; medial temporal lobe atrophy | pages 1,3; Source: proband; Ragged\-red fibers. |
| 2 | 13376 | m.13376T\>C | T13376C\-F1 | T13376C\-F1\-I2 | Fam | F | N | Y | A | 52 years | Homo | / | / | 99\.9%(H) | Short stature, recurrent headaches, elevated lactate after exercise, normal neurological exam/MRI. | pages 1,3; Source: mother |

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