A5558G

# General Information

| **Position** | **5558** | **Variant** | **M.5558A\>G** | **Locus** | **MT\-TW** | **RNA** | **TRNA Trp** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | Nr | **Heteroplasmy** | Nr | **MitoTIP** | 31\.70% | **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.5558A\>G** variant in MT\-TW has been reported in 1 pedigree. To date, 1 carrier has been reported. Mutation\-load data were not available. The main clinical manifestations among affected carriers included nonsyndromic sensorineural hearing loss (NSSNHL).

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5558 | M.5558A\>G | A5558G\-F1 | Portugal | Nonsyndromic sensorineural hearing loss (NSSNHL) | ND | ND | 2011 | [22567359](https://pubmed.ncbi.nlm.nih.gov/22567359/) |  |

# 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 | 5558 | M.5558A\>G | A5558G\-F1 | A5558G\-F1\-P1 | Uninf | M | Y | Y | A | 10 | \+ | / | / | / | Nonsyndromic sensorineural hearing loss (NSSNHL) |  |

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