G10437A

# **General Information**

| **Position** | **10437** | **Variant** | **m.10437G\>A** | **Locus** | **MT\-TR** | **RNA** | **tRNA Arg** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 51\.70% | **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.10437G\>A** variant in MT\-TR has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 0% to 90%, with a median of 41% overall; affected carriers showed mutation loads from 0% to 90%, with a median of 41%. In one affected carrier, the mutation was undetectable in blood (0%) and h,f,bm (0%) but exceeded 20% in muscle (90%) and urine (82%). The main clinical manifestations among affected carriers included mitochondrial encephalomyopathy, ataxia, blindness, cataracts, epilepsy, exercise intolerance, muscle weakness, renal dysfunction, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 10437 | m.10437G\>A | G10437A\-F1 | Sweden | Mitochondrial encephalomyopathy | 0 | 0 | 2013 | [22781096](https://pubmed.ncbi.nlm.nih.gov/22781096/) |  |

# **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 | 10437 | m.10437G\>A | G10437A\-F1 | G10437A\-F1\-P1 | De novo | M | Y | Y | A | 16 | 0 | 90% | 82% | 0%(H,F,BM) | Mitochondrial encephalomyopathy; visual impairment/cataracts/blindness; ataxia; muscle weakness; exercise intolerance; sensorineural hearing impairment; epilepsy; renal dysfunction |  |

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