ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.604C>G (p.Leu202Val)

dbSNP: rs1890913335
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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 RCV001352118 SCV001546645 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2020-07-19 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TRPV4 protein function. 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 leucine with valine at codon 202 of the TRPV4 protein (p.Leu202Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine.

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