T616G

# **General Information**

| **Position** | **616** | **Variant** | **m.616T\>G** | **Locus** | **MT\-TF** | **RNA** | **tRNA Phe** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **mitoTIP** | 95\.60% | **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.616T\>G** variant in MT\-TF has been reported in 1 pedigree. To date, 4 carriers have been reported. Homoplasmy was reported in 1/4 carriers (25%), and 3/4 carriers (75%) were affected. The main clinical manifestations among affected carriers included tonic\-clonic seizures.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 616 | m.616T\>G | T616G\-F1 | Germany | Epilepsy | 2 | 1 | [20142618](https://pubmed.ncbi.nlm.nih.gov/20142618/) | 2010 |  |

# **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 | 616 | m.616T\>G | T616G\-F1 | T616G\-F1\-I2 | Uninf | F | N | Y | A | / | Hemo | Hemo | ND | ND | Tonic\-clonic seizures |  |
| 2 | 616 | m.616T\>G | T616G\-F1 | T616G\-F1\-I3 | Uninf | F | N | Y | D | 16 | ND | ND | ND | ND | Tonic\-clonic seizures |  |
| 3 | 616 | m.616T\>G | T616G\-F1 | T616G\-F1\-II1 | Fam | M | Y | Y | D | 17 | Homo | Heteroplasmic (high) | ND | ND | Tonic\-clonic seizures |  |
| 4 | 616 | m.616T\>G | T616G\-F1 | T616G\-F1\-II2 | Fam | F | N | N | A | / | ND | ND | ND | ND | / |  |

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