ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.614_615delinsTA (p.Asp205Val)

dbSNP: rs2128132958
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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 RCV002238429 SCV002508358 uncertain significance Charcot-Marie-Tooth disease type 2 2021-10-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 205 of the GARS protein (p.Asp205Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This variant has not been reported in the literature in individuals affected with GARS-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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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