C14680A

# **General Information**

| **Position** | **14680** | **Variant** | **m.14680C\>A** | **Locus** | **MT\-TE** | **RNA** | **tRNA Glu** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 35\.50% | **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.14680C\>A** variant in MT\-TE has been reported in 1 pedigree. To date, 4 carriers have been reported. Reported mutation loads ranged from 0% to 99%, with a median of 8\.5% overall. In one carrier, a marked tissue\-specific difference was observed, with higher mutation loads in urine (12%), bone marrow (13%), and hair (35%) than in blood (less than 5%). 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 | 14680 | m.14680C\>A | [C14680A\-F1 ](https://mitofam.com/doc/930/)| USA | Persistent fatigue, weakness, dyspnea, headache, unsteady gait, facial weakness, facial grimaces, limb weakness, ataxia, dysmetria, impaired movement | 2 | 1 | 2007 | [17715279](https://pubmed.ncbi.nlm.nih.gov/17715279/) |  |

# **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 | 14680 | m.14680C\>A | C14680A\-F1 | C14680A\-F1\-I2 | Uninf | F | N | N | A | ND | \<5% | / | 12% | 13% (BM), trace/trace/35% (H) | Healthy |  |
| 2 | 14680 | m.14680C\>A | C14680A\-F1 | C14680A\-F1\-II1 | Fam | M | Y | Y | A | 14 | 83% | 98% | 96% | \>99% (BM), 98\-99% (H) | Persistent fatigue, weakness, dyspnea, headache, unsteady gait, facial weakness, facial grimaces, limb weakness, ataxia, dysmetria, impaired movement |  |
| 3 | 14680 | m.14680C\>A | C14680A\-F1 | C14680A\-F1\-II2 | Fam | M | N | Y | A | 12 years | 0 | / | 0 | 0% (BM), 0% (H) | Autistic features/possible Asperger syndrome, clumsy, decreased muscle tone, mild proximal arm weakness |  |
| 4 | 14680 | m.14680C\>A | C14680A\-F1 | C14680A\-F1\-II3 | Fam | F | N | N | A | 10 years | 0 | / | 0 | 0% (BM), 0% (H) | Healthy |  |

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