C15800T

# **General Information**

| **Position** | **15800** | **Variant** | **m.15800C\>T** | **Locus** | **MT\-CYB** | **Amino\-AcidChange** | **Q352Term** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | NA | **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.15800C\>T** variant in MT\-CYB has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 0% to 45%, with a median of 0% overall; affected carriers showed mutation loads from 0% to 45%, with a median of 0%. In one affected carrier, the mutation was undetectable in blood (0%), fibroblasts (0%), bone marrow (0%), hair (0%), and vesical mucosa (0%) but exceeded 20% in muscle (45%). The main clinical manifestations among affected carriers included exercise Intolerance, muscle Cramps, and proximal Weakness.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15800 | m.15800C\>T | C15800T\-F1 | Italy | Exercise Intolerance, Muscle Cramps, Proximal Weakness | 0 | 0 | 2002 | [11731284](https://pubmed.ncbi.nlm.nih.gov/11731284/) |  |

# **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 | 15800 | m.15800C\>T | C15800T\-F1 | C15800T\-F1\-I1 | De novo | F | Y | Y | ND | 24 | 0 | 45% | / | 0% (F); 0% (BM); 0% (H); 0% (vesical mucosa) | Exercise Intolerance, Muscle Cramps, Proximal Weakness |  |

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