G8313A

# **General Information**

| **Position** | **8313** | **Variant** | **m.8313G\>A** | **Locus** | **MT\-TK** | **RNA** | **tRNA Lys** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | Pathogenic | **Pathogenicity** | Cfrm \[LP] |

"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.8313G\>A** variant in MT\-TK has been reported in 2 pedigrees. To date, 2 carriers have been reported. Reported mutation loads ranged from 72\.1% to 96\.4%, with a median of 82% overall; affected carriers showed mutation loads from 72\.1% to 96\.4%, with a median of 82%. The main clinical manifestations among affected carriers included FPG 11\.6, hbA1c 6\.6, short stature, type 2 diabetes mellitus, dysarthria, dysphagia, myopathy, onset 50, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8313 | m.8313G\>A | G8313A\-F1 | Ireland | MNGIE\-like / progressive mitochondrial cytopathy | 0 | 0 | 2009 | [19618438](https://pubmed.ncbi.nlm.nih.gov/19618438/) | / |
| 2 | 8313 | m.8313G\>A | G8313A\-F2 | China | Type 2 diabetes mellitus | 0 | 0 | 2021 | [34557026](https://pubmed.ncbi.nlm.nih.gov/34557026/) | / |

# **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 | 8313 | m.8313G\>A | G8313A\-F1 | G8313A\-F1\-P1 | De novo | F | Y | Y | A | 29 | / | 82% | / | 96\.44% (COX\-deficient muscle fibers); 72\.11% (COX\-positive muscle fibers) | Short stature; myopathy; peripheral neuropathy; osteoporosis; dysphagia; dysarthria; progressive chewing/swallowing difficulty | Mother urine/blood negative; two brothers' muscle negative. |
| 2 | 8313 | m.8313G\>A | G8313A\-F2 | G8313A\-F2\-P1 | Uninf | F | Y | Y | ND | 65 | Hetero | / | / | / | Type 2 diabetes mellitus; onset 50; HbA1c 6\.6; FPG 11\.6 | Original label DM\-199; qualitative heteroplasmy in blood; family history No. |

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