G611A

# **General Information**

| **Position** | **611** | **Variant** | **m.611G\>A** | **Locus** | **MT\-TF** | **RNA** | **tRNA Phe** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 51\.20% | **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.611G\>A** variant in MT\-TF has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 0% to 91%, with a median of 0% overall; affected carriers showed mutation loads from 0% to 91%, with a median of 0%. In one affected carrier, the mutation was undetectable in blood (0%), urine (0%), fibroblasts (0%), and bone marrow (0%) but exceeded 20% in muscle (91%). The main clinical manifestations among affected carriers included MERRF, ataxia, exercise intolerance, migraine, progressive limb myoclonus, and sensorineural hearing loss.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 611 | m.611G\>A | G611A\-F1 | Italy | MERRF | 0 | 0 | 2004 | 15184630 |  |

# **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 | 611 | m.611G\>A | G611A\-F1 | G611A\-F1\-P1 | De novo | F | Y | Y | A | 42 | 0% | 91% | 0% | 0% (F); 0% (BM) | MERRF; migraine, progressive limb myoclonus, exercise intolerance, sensorineural hearing loss, ataxia |  |

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