G622A

# General Information

| **Position** | **622** | **Variant** | **m.622G\>A** | **Locus** | **MT\-TF** | **RNA** | **tRNA Phe** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 41\.50% | **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.622G\>A** variant in MT\-TF has been reported in 1 pedigree. To date, 4 carriers have been reported. Reported mutation loads ranged from 10% to 88%, with a median of 20% overall; affected carriers showed mutation loads from 36% to 88%, with a median of 66%; unaffected carriers showed mutation loads from 10% to 20%, with a median of 15%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (88%) than in blood (36%). In one unaffected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in blood (20%), urine (20%), bone marrow (20%), and hair (20%) than in blood (10%), urine (10%), and other tissue (10%). The main clinical manifestations among affected carriers included walking difficulties, exercise intolerance and paresthesia in the feet, and mild hearing impairment.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 622 | m.622G\>A | [G622A\-F1](https://mitofam.com/doc/987/) | Germany | Late\-Onset Neuromuscular Disease, mild myopathy and peripheral neuropathy | 3 | 1 | 2006 | 16769874 |  |

# 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 | 622 | m.622G\>A | G622A\-F1 | G622A\-F1\-II1 | Fam | F | Y | Y | A | 66 | 36% | 88% | 66% | 70% (H); 63% (BM) | Walking difficulties, exercise intolerance and paresthesia in the feet, mild hearing impairment |  |
| 2 | 622 | m.622G\>A | G622A\-F1 | G622A\-F1\-I2 | Uninf | F | N | Y | D | ND | / | / | / | / | Walking difficulties |  |
| 3 | 622 | m.622G\>A | G622A\-F1 | G622A\-F1\-II2 | Uninf | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 4 | 622 | m.622G\>A | G622A\-F1 | G622A\-F1\-III1 | Fam | F | N | N | A | ND | 15\.00% | / | 15\.00% | 15% (BM); 15% (H) | Healthy |  |

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