T9166C

# **General Information**

| **Position** | **9166** | **Variant** | **m.9166T\>C** | **Locus** | **MT\-ATP6** | **Amino\-AcidChange** | **F214L** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **APOGEE2** | VUS | **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.9166T\>C** variant in MT\-ATP6 has been reported in 2 pedigrees. To date, 2 carriers have been reported. Reported mutation loads ranged from 45% to 100%, with a median of 59% overall; affected carriers showed mutation loads from 45% to 100%, with a median of 59%. The main clinical manifestations among affected carriers included bilateral optic neuropathy, proximal muscle weakness, episodic rhabdomyolysis, exercise intolerance, hyperlactatemia, myalgia, and psychiatric manifestations with poor school performance..

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9166 | m.9166T\>C | T9166C\-F1 | France | Mitochondrial myopathy | 0 | 0 | 2020 | [32419253](https://pubmed.ncbi.nlm.nih.gov/32419253/) |  |
| 2 | 9166 | m.9166T\>C | T9166C\-F2 | Portugal | Bilateral optic neuropathy; mitochondrial cytopathy | ND | ND | 2017 | [28027978](https://pubmed.ncbi.nlm.nih.gov/28027978/) |  |

# **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 | 9166 | m.9166T\>C | T9166C\-F1 | T9166C\-F1\-P1 | Uninf | M | Y | Y | A | 52 | 45% | 60% | 55% | 59%(BM) | Proximal muscle weakness; exercise intolerance; myalgia; episodic rhabdomyolysis; hyperlactatemia |  |
| 2 | 9166 | m.9166T\>C | T9166C\-F2 | T9166C\-F2\-P1 | Uninf | F | Y | Y | ND | 15 | / | / | / | lymphocytes: 100% | Bilateral optic neuropathy; psychiatric manifestations with poor school performance. |  |

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