G583A

# **General Information**

| **Position** | **583** | **Variant** | **m.583G\>A** | **Locus** | **MT\-TF** | **RNA** | **tRNA Phe** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | Pathogenic | **Pathogenicity** | Cfrm \[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.583G\>A** variant in MT\-TF has been reported in 2 pedigrees. To date, 2 carriers have been reported. Reported mutation loads ranged from 0% to 79%, with a median of 0% overall; affected carriers showed mutation loads from 0% to 79%, with a median of 0%. In one affected carrier, the mutation was undetectable in blood (0%) and fibroblasts (0%) but exceeded 20% in muscle (58%). In one affected carrier, the mutation was undetectable in blood (0%) and fibroblasts (0%) but exceeded 20% in muscle (79%). The main clinical manifestations among affected carriers included mELAS with recurrent stroke\-like episodes from age 12, mitochondrial myopathy with exercise intolerance, asymptomatic retinal dystrophy, breathlessness, cerebellar ataxia, complex partial seizures, focal motor seizures, headache, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 583 | m.583G\>A | G583A\-F1 | UK | MELAS, mitochondrial encephalomyopathy | 1 | 0 | 1998 | 9771776 |  |
| 2 | 583 | m.583G\>A | G583A\-F2 | Sweden | Mitochondrial myopathy, exercise intolerance and retinal dystrophy | 0 | 0 | 2006 | 16806928 |  |

# **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 | 583 | m.583G\>A | G583A\-F1 | G583A\-F1\-P1 | Uninf | F | Y | Y | A | 32 | 0 | 58% | / | 0% (F) | MELAS with recurrent stroke\-like episodes from age 12, headache/photophobia/vomiting, focal motor seizures, transient dense left hemiplegia, progressive cognitive decline, cerebellar ataxia, complex partial seizures, salt\-and\-pepper retinopathy, mild spasticity in all four limbs, intermittent dystonic upper\-limb posturing |  |
| 2 | 583 | m.583G\>A | G583A\-F2 | G583A\-F2\-P1 | Uninf | F | Y | Y | A | 17 | 0 | 79% | / | 0% (F) | Mitochondrial myopathy with exercise intolerance, asymptomatic retinal dystrophy, breathlessness/palpitations on exertion, muscular fatigue |  |

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