ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.943C>G (p.Arg315Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064018 SCV001228891 pathogenic Charcot-Marie-Tooth disease axonal type 2C 2019-11-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 315 of the TRPV4 protein (p.Arg315Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (Invitae). In at least one individual the variant was observed to be de novo. 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 disrupts the p.Arg315 amino acid residue in TRPV4. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 20037588, 20460441, 21115951, 21454511, 22065612, 22702953). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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