C15975T

# **General Information**

| **Position** | **15975** | **Variant** | **m.15975C\>T** | **Locus** | **MT\-TP** | **RNA** | **tRNA Pro** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 78\.30% | **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.15975C\>T** variant in MT\-TP has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 0% to 40%, with a median of 0% overall; affected carriers showed mutation loads from 0% to 40%, with a median of 25%; unaffected carriers showed mutation loads from 0%, with a median of 0%. In one affected carrier, the mutation was undetectable in bm,h,f (0%) but exceeded 20% in muscle (40%) and urine (40%). The main clinical manifestations among affected carriers included nARP\-like syndrome.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15975 | m.15975C\>T | [C15975T\-F1](https://mitofam.com/doc/1230/) | Italy | NARP\-like syndrome | 3 | 0 | 2009 | [19223931](https://pubmed.ncbi.nlm.nih.gov/19223931/) |  |

# **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 | 15975 | m.15975C\>T | C15975T\-F1 | C15975T\-F1\-II2 | Uninf | F | Y | Y | A | 56 | \<10% | 40% | 40% | 0%(BM,H,F) | NARP\-like syndrome |  |
| 2 | 15975 | m.15975C\>T | C15975T\-F1 | C15975T\-F1\-III1 | Fam | F | N | N | A | ND | 0 | / | 0 | 0%(BM,H) | Healthy |  |

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