ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.1577T>G (p.Phe526Cys) (rs1329377960)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532442 SCV000646242 uncertain significance Charcot-Marie-Tooth disease type 2C 2017-03-31 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with cysteine at codon 526 of the TRPV4 protein (p.Phe526Cys). The phenylalanine residue is weakly conserved and there is a large physicochemical difference between phenylalanine and cysteine. The frequency data for this variant in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a TRPV4-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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