G14710A

# **General Information**

| **Position** | **14710** | **Variant** | **m.14710G\>A** | **Locus** | **MT\-TE** | **RNA** | **tRNA Glu** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 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.14710G\>A** variant in MT\-TE has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 0% to 77%, with a median of 0% overall. In one carrier, the mutation was undetectable in blood (0%), bone marrow (0%), and fibroblasts (0%) but exceeded 20% in muscle (77%). 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 | 14710 | m.14710G\>A | G14710A\-F1 | US | Mitochondrial myopathy, retinal pigmentary changes, PEO, ptosis, easy fatigability, muscle weakness, exertional pain, syncope, migraine, myalgia | 0 | 0 | 2005 | [15670724](https://pubmed.ncbi.nlm.nih.gov/15670724/) |  |

# **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 | 14710 | m.14710G\>A | G14710A\-F1 | G14710A\-F1\-P1 | De novo | F | Y | Y | A | 41 | 0 | 77% | / | 14% (H), 0% (BM), 0% (F) | Ptosis, retinal pigmentary changes, PEO, easy fatigability, muscle weakness, exertional pain, syncope, migraine, myalgia |  |

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