T9101C

# **General Information**

| **Position** | **9101** | **Variant** | **m.9101T\>C** | **Locus** | **MT\-ATP6** | **Amino\-AcidChange** | **I192T** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.9101T\>C** variant in MT\-ATP6 has been reported in 2 pedigrees. To date, 3 carriers have been reported. Homoplasmy was reported in 3/3 carriers (100%), and 2/3 carriers (66\.7%) were affected. The main clinical manifestations among affected carriers included LHON, RRMS, acute stage with peripapillary microangiopathy., muscle weakness, numbness, optic atrophy, and visual problem.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9101 | m.9101T\>C | T9101C\-F1 | Saudi Arabia | Relapsing\-remitting multiple sclerosis cohort | 0 | 0 | 2022 | [35773337](https://pubmed.ncbi.nlm.nih.gov/35773337/) |  |
| 2 | 9101 | m.9101T\>C | [T9101C\-F2 ](https://mitofam.com/doc/1799/)| Finland | Leber hereditary optic neuroretinopathy | 1 | 0 | 1995 | [7726182](https://pubmed.ncbi.nlm.nih.gov/7726182/) |  |

# **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 | 9101 | m.9101T\>C | T9101C\-F1 | T9101C\-F1\-P1 | Uninf | F | Y | Y | A | 27 | / | / | / | Homo | RRMS; numbness; visual problem; muscle weakness |  |
| 2 | 9101 | m.9101T\>C | T9101C\-F2 | T9101C\-F2\-III1 | Fam | M | Y | Y | A | 21 | / | / | / | Homo | LHON; optic atrophy; acute stage with peripapillary microangiopathy. |  |
| 3 | 9101 | m.9101T\>C | T9101C\-F2 | T9101C\-F2\-II1 | Fam | F | N | N | A | 79 | / | / | / | Homo | Healthy; eye examination unrevealing; no peripapillary microangiopathy. |  |

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