Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000467156 | SCV000553788 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2023-08-10 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 551 of the AARS protein (p.Val551Met). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AARS-related conditions. ClinVar contains an entry for this variant (Variation ID: 412292). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV002461219 | SCV002755286 | uncertain significance | Inborn genetic diseases | 2019-10-15 | criteria provided, single submitter | clinical testing | The p.V551M variant (also known as c.1651G>A), located in coding exon 11 of the AARS gene, results from a G to A substitution at nucleotide position 1651. The valine at codon 551 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Mayo Clinic Laboratories, |
RCV004791477 | SCV005411349 | uncertain significance | not provided | 2023-08-11 | criteria provided, single submitter | clinical testing | BP4, PM2_moderate |