T9017C

# **General Information**

| **Position** | **9017** | **Variant** | **m.9017T\>C** | **Locus** | **MT\-ATP6** | **Amino\-AcidChange** | **I164T** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.9017T\>C** variant in MT\-ATP6 has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 45\.4% to 83\.2%, with a median of 64\.3% overall; affected carriers showed mutation loads from 45\.4% to 83\.2%, with a median of 64\.3%. The main clinical manifestations among affected carriers included developmental delay and nonspecific neurologic disorder and myopathy without clear cause.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9017 | m.9017T\>C | [T9017C\-F1](https://mitofam.com/doc/1789/) | Uruguay | Mitochondrial neurologic disorder | 0 | 1 | 2018 | [30227252](https://pubmed.ncbi.nlm.nih.gov/30227252/) | Carrying homo G9010A |

# **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 | 9017 | m.9017T\>C | T9017C\-F1 | T9017C\-F1\-II1 | Fam | F | Y | Y | A | 14 | 83\.2% | / | / | / | Developmental delay and nonspecific neurologic disorder | Carrying homo G9010A |
| 2 | 9017 | m.9017T\>C | T9017C\-F1 | T9017C\-F1\-I2 | Uninf | F | N | Y | A | ND | 45\.4% | / | / | / | Myopathy without clear cause | Carrying homo G9010A |

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