ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.1987A>G (p.Ser663Gly)

dbSNP: rs1889846400
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222520 SCV001394620 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2019-06-29 criteria provided, single submitter clinical testing 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. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TRPV4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with glycine at codon 663 of the TRPV4 protein (p.Ser663Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine.

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