C15990T

# **General Information**

| **Position** | **15990** | **Variant** | **m.15990C\>T** | **Locus** | **MT\-TP** | **RNA** | **tRNA Pro** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | Pathogenic | **Pathogenicity** | Cfrm \[LP] |

"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.15990C\>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 85%, with a median of 0% overall; affected carriers showed mutation loads from 0% to 85%, with a median of 0%. In one affected carrier, the mutation was undetectable in blood (0%) but exceeded 20% in muscle (85%). In one affected carrier, the mutation was undetectable in blood (0%), urine (0%), and bm,h (0%) but exceeded 20% in muscle (78%). The main clinical manifestations among affected carriers included mitochondrial myopathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15990 | m.15990C\>T | C15990T\-F1 | Russia | Mitochondrial myopathy | 0 | 0 | 1993 | [7689388](https://pubmed.ncbi.nlm.nih.gov/7689388/) |  |
| 2 | 15990 | m.15990C\>T | C15990T\-F2 | Kosovo | Mitochondrial myopathy | 2 | 0 | 2020 | [32305257](https://pubmed.ncbi.nlm.nih.gov/32305257/) |  |

# **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 | 15990 | m.15990C\>T | C15990T\-F1 | C15990T\-F1\-P1 | De novo | F | Y | Y | A | 7 | 0 | 85% | / | / | Mitochondrial myopathy |  |
| 2 | 15990 | m.15990C\>T | C15990T\-F2 | C15990T\-F2\-P1 | De novo | F | Y | Y | A | 34 | 0 | 78% | 0 | 0%(BM,H) | Mitochondrial myopathy |  |

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