T14687C

# **General Information**

| **Position** | **14687** | **Variant** | **m.14687T\>C** | **Locus** |  | **RNA** |  |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** |  | **Heteroplasmy** |  | **mitoTIP** | N/A | **Pathogenicity** |  |

"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.14687T\>C variant in MT\-TE has been reported in 1 pedigree. To date, 1 carrier has been reported. Homoplasmy was reported in 1/1 carriers (100%), and 1/1 carriers (100%) were affected. In one carrier, the mutation was undetectable in blood (0%) but exceeded 20% in muscle (homoplasmy). The main clinical manifestations among affected carriers included No specific clinical features were available for affected carriers..

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14687 | m.14687T\>C | T14687C\-F1 | Italy | Myopathy, lactic acidosis, pigmentary retinopathy, respiratory failure, exercise intolerance, weakness, fatigue, tachycardia, dyspnea, tachypnea, wheezing, muscle hypotrophy | ND | ND | 2003 | [12760436](https://pubmed.ncbi.nlm.nih.gov/12760436/) | it may have been a spontaneous somatic mutation in muscle |

# **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 | 14687 | m.14687T\>C | T14687C\-F1 | T14687C\-F1\-P1 | De novo | M | Y | Y | D | 16 | 0% | \~Homo | / | / | Myopathy, lactic acidosis, pigmentary retinopathy, respiratory failure, exercise intolerance, weakness, fatigue, tachycardia, dyspnea, tachypnea, wheezing, muscle hypotrophy | it may have been a spontaneous somatic mutation in muscle |

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