A15958T

# **General Information**

| **Position** | **15958** | **Variant** | **m.15958A\>T** | **Locus** | **MT\-TP** | **RNA** | **tRNA Pro** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 93\.80% | **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.15958A\>T** variant in MT\-TP has been reported in 2 pedigrees. To date, 2 carriers have been reported. Reported mutation loads ranged from 0% to 96%, with a median of 48% overall; affected carriers showed mutation loads from 0% to 96%, with a median of 48%. In one affected carrier, the mutation was undetectable in bone marrow (0%) but exceeded 20% in muscle (94%), urine (78%), and fibroblasts (48%). In one affected carrier, the mutation was undetectable in bone marrow (0%) but exceeded 20% in muscle (96%) and urine (78%). The main clinical manifestations among affected carriers included exercise intolerance, growth retardation, mental, mitochondrial myopathy, motor developmental delay, and ptosis.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15958 | m.15958A\>T | A15958T\-F1 | France | Mental, Motor developmental delay, Exercise intolerance, Ptosis, Growth retardation | 0 | 0 | 2016 | [27816331](https://pubmed.ncbi.nlm.nih.gov/27816331/) |  |
| 2 | 15958 | m.15958A\>T | A15958T\-F2 | France | mitochondrial myopathy | 0 | 0 | 2020 | [32419253](https://pubmed.ncbi.nlm.nih.gov/32419253/) |  |

# **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 | 15958 | m.15958A\>T | A15958T\-F1 | A15958T\-F1\-P1 | De novo | M | Y | Y | A | 11 | 9% | 94% | 78% | 48% (F), 0%(BM) | Mental, Motor developmental delay, Exercise intolerance, Ptosis, Growth retardation |  |
| 2 | 15958 | m.15958A\>T | A15958T\-F2 | A15958T\-F2\-P1 | De novo | M | Y | Y | A | 13 | 14% | 96% | 78% | 0% (BM) | Mitochondrial myopathy |  |

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