ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.2077C>T (p.Arg693Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005076172 SCV005706435 uncertain significance Charcot-Marie-Tooth disease type 2 2024-07-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 693 of the GARS protein (p.Arg693Trp). This variant is present in population databases (rs753078831, gnomAD 0.006%). This missense change has been observed in individual(s) with amyotrophic lateral sclerosis (PMID: 34275688). This variant is also known as c.C1915T:p.R639W. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GARS protein function with a negative predictive value of 80%. 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.

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