T14849C

# **General Information**

| **Position** | **14849** | **Variant** | **m.14849T\>C** | **Locus** | **MT\-CYB** | **Amino\-AcidChange** | **S35P** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-pathogenic | **Pathogenicity** | Cfrm \[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.14849T\>C** variant in MT\-CYB has been reported in 2 pedigrees. To date, 2 carriers have been reported. Reported mutation loads ranged from 12% to 85%, with a median of 69% overall; affected carriers showed mutation loads from 12% to 85%, with a median of 69%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (69%) than in fibroblasts (12%). The main clinical manifestations among affected carriers included exercise intolerance, septo\-optic dysplasia, hypertrophic cardiomyopathy, myalgia, retinitis pigmentosa, and rhabdomyolysis.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14849 | m.14849T\>C | T14849C\-F1 | Germany | Septo\-optic dysplasia, retinitis pigmentosa, exercise intolerance, hypertrophic cardiomyopathy, rhabdomyolysis | 2 | 0 | 2002 | [11891837](https://pubmed.ncbi.nlm.nih.gov/11891837/) |  |
| 2 | 14849 | m.14849T\>C | T14849C\-F2 | USA | Exercise Intolerance,myalgia | 0 | 0 | 2010 | [20544923](https://pubmed.ncbi.nlm.nih.gov/20544923/) |  |

# **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 | 14849 | m.14849T\>C | T14849C\-F1 | T14849C\-F1\-II2 | De novo | M | Y | Y | A | 25 | \+ | 69% | \+ | 12% (F) | Septo\-optic dysplasia, retinitis pigmentosa, exercise intolerance, hypertrophic cardiomyopathy, rhabdomyolysis |  |
| 2 | 14849 | m.14849T\>C | T14849C\-F2 | T14849C\-F2\-I1 | Uninf | M | Y | Y | A | 18 | / | 85% | / | / | Exercise Intolerance,myalgia |  |

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