T14674G

# **General Information**

| **Position** | **14674** | **Variant** | **m.14674T\>G** | **Locus** | **MT\-TE** | **RNA** | **tRNA Glu** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 29\.40% | **Pathogenicity** | Reported \[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.14674T\>G variant in MT\-TE has been reported in 2 pedigrees. To date, 2 carriers have been reported. Homoplasmy was reported in 2/2 carriers (100%), and 2/2 carriers (100%) were affected. 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 | 14674 | m.14674T\>G | T14674G\-F1 | Japan | Muscle weakness, congenital myopathy | ND | ND | 2010 | [21194154](https://pubmed.ncbi.nlm.nih.gov/21194154/) |  |
| 2 | 14674 | m.14674T\>G | T14674G\-F2 | Japan | Failure to thrive, mitochondrial myopathy | ND | ND | 2010 | [21194154](https://pubmed.ncbi.nlm.nih.gov/21194154/) |  |

# **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 | 14674 | m.14674T\>G | T14674G\-F1 | T14674G\-F1\-P1 | Uninf | F | Y | Y | A | 8 months | / | Homo | / | / | Muscle weakness, congenital myopathy |  |
| 2 | 14674 | m.14674T\>G | T14674G\-F2 | T14674G\-F2\-P1 | Uninf | F | Y | Y | A | 5 months | / | Homo | / | / | Failure to thrive,mitochondrial myopathy |  |

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