ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.1283G>A (p.Gly428Glu)

dbSNP: rs1890414210
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001201860 SCV001372951 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2019-07-17 criteria provided, single submitter clinical testing 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 glycine with glutamic acid at codon 428 of the TRPV4 protein (p.Gly428Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. 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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