T9331C

# **General Information**

| **Position** | **9331** | **Variant** | **m.9331T\>C** | **Locus** | **MT\-CO3** | **Amino\-AcidChange** | **L42P** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.9331T\>C** variant in MT\-CO3 has been reported in 1 pedigree. To date, 1 carrier has been reported. Homoplasmy was reported in 1/1 carriers (100%), and 1/1 carriers (100%) were affected. The main clinical manifestations among affected carriers included cI 30% and CIV 27% deficiency, failure to thrive, cognitive impairment, metabolic acidosis, and optic atrophy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9331 | m.9331T\>C | T9331C\-F1 | Portugal | Mitochondrial dysfunction with failure to thrive, metabolic acidosis, cognitive impairment, optic atrophy | ND | ND | 2019 | [30831263](https://pubmed.ncbi.nlm.nih.gov/30831263/) |  |

# **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 | 9331 | m.9331T\>C | T9331C\-F1 | T9331C\-F1\-P34 | Uninf | M | ND | Y | A | 17 | / | / | / | Homo; tissue/source ND | Failure to thrive; metabolic acidosis; cognitive impairment; optic atrophy; CI 30% and CIV 27% deficiency |  |

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