ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.1379G>C (p.Gly460Ala)

dbSNP: rs924595179
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002238452 SCV002508536 uncertain significance Charcot-Marie-Tooth disease type 2 2021-03-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with GARS-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with alanine at codon 460 of the GARS protein (p.Gly460Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
GeneDx RCV003126204 SCV003803537 uncertain significance not provided 2022-08-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26503042, 26138142, 25168514)

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