T10010C

# **General Information**

| **Position** | **10010** | **Variant** | **m.10010T\>C** | **Locus** | **MT\-TG** | **RNA** | **tRNA Gly** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | Pathogenic | **Pathogenicity** | Cfrm \[VUS\*] |

"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.10010T\>C** variant in MT\-TG has been reported in 4 pedigrees. To date, 4 carriers have been reported. Reported mutation loads ranged from 5\.4% to 90\.7%, with a median of 52\.3% overall; affected carriers showed mutation loads from 5\.4% to 90\.7%, with a median of 52\.3%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (90%) than in blood (14%). In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (89\.6%) than in blood (5\.4%). The main clinical manifestations among affected carriers included myalgias, encephalomyopathy, exercise intolerance, severe headache, ataxic spastic gait, bilateral optic atrophy, chest pain, choreoathetoid movements, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 10010 | m.10010T\>C | T10010C\-F1 | UK | Mitochondrial encephalomyopathy | ND | ND | 1997 | [9199564](https://pubmed.ncbi.nlm.nih.gov/9199564/) | Carrying A5656G |
| 2 | 10010 | m.10010T\>C | T10010C\-F2 | UK | Mitochondrial encephalomyopathy | ND | ND | 2000 | [10611123](https://pubmed.ncbi.nlm.nih.gov/10611123/) | Carrying A5656G |
| 3 | 10010 | m.10010T\>C | T10010C\-F3 | USA | Exercise intolerance, muscle burning, fatigue, diffuse muscle aches, myalgias, myocardial infarction, chest pain | ND | ND | 2002 | [11971101](https://pubmed.ncbi.nlm.nih.gov/11971101/) |  |
| 4 | 10010 | m.10010T\>C | T10010C\-F4 | Italy | Mitochondrial encephalomyopathy | ND | ND | 2004 | [16120360](https://pubmed.ncbi.nlm.nih.gov/16120360/) |  |

# **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 | 10010 | m.10010T\>C | T10010C\-F1 | T10010C\-F1\-P1 | Uninf | F | Y | Y | A | 33 | 14% | 90% | / | 15%(F) | Severe headache, nausea, vomiting, short stature, low IQ, exaggerated reflexes, flexor plantars, choreoathetoid movements, unsteadiness, episodic loss of consciousness, leg cramps, mild tandem ataxia, dystonic posturing, mild symmetrical tetraparesis, dysdidokokinesis, dysmetria, bilateral optic atrophy, right\-sided sensorineural hearing loss, mild left hemiparesis, ataxic spastic gait, repeated cerebral infarction | Carrying A5656G |
| 2 | 10010 | m.10010T\>C | T10010C\-F2 | T10010C\-F2\-P1 | Uninf | F | Y | Y | A | 35 | \+ | \+ | / | / | Encephalomyopathy, hearing loss | Carrying A5656G |
| 3 | 10010 | m.10010T\>C | T10010C\-F3 | T10010C\-F3\-P1 | Uninf | F | Y | Y | A | 42 | / | 90\.7% | / | / | Exercise intolerance, muscle burning, fatigue, diffuse muscle aches, myalgias, myocardial infarction, chest pain |  |
| 4 | 10010 | m.10010T\>C | T10010C\-F4 | T10010C\-F4\-P1 | Uninf | M | Y | Y | D | 22 | 5\.4% | 89\.6% | / | / | Myalgias, muscular cramps, limb weakness, lower limb neuropathy, hypothyroidism, generalised tonic\-clonic seizures, lactic acidosis |  |

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