G15915A

# General Information

| **Position** | **15915** | **Variant** | **m.15915G\>A** | **Locus** | **MT\-TT** | **RNA** | **tRNA Thr** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 73\.70% | **Pathogenicity** | Reported \[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.15915G\>A** variant in MT\-TT has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 18% to 74%, with a median of 32% overall; affected carriers showed mutation loads from 18% to 74%, with a median of 32%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (74%) than in blood (18%). The main clinical manifestations among affected carriers included seizures, basal ganglia calcification, cerebral atrophy, growth failure, hearing loss, hypogonadism, mental retardation, and myopathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15915 | m.15915G\>A | G15915A\-F1 | Japan | Seizures, hearing loss, myopathy, mental retardation, growth failure, hypogonadism, cerebral atrophy, basal ganglia calcification | 0 | 0 | 1996 | [8769114](https://pubmed.ncbi.nlm.nih.gov/8769114/), [9367299](https://pubmed.ncbi.nlm.nih.gov/9367299/) |  |

# 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 | 15915 | m.15915G\>A | G15915A\-F1 | G15915A\-F1\-II2 | De novo | M | Y | Y | A | 9 | 18% | 74% | / | 32% (F) | Seizures, hearing loss, myopathy, mental retardation, growth failure, hypogonadism, cerebral atrophy, basal ganglia calcification |  |

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