ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.1309C>G (p.Leu437Val)

dbSNP: rs1890412020
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069756 SCV001234946 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2022-05-07 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 437 of the TRPV4 protein (p.Leu437Val). This variant has not been reported in the literature in individuals affected with TRPV4-related conditions. 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. ClinVar contains an entry for this variant (Variation ID: 862917).

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