ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.449A>T (p.Asn150Ile)

dbSNP: rs1376333910
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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 RCV001047861 SCV001211843 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2019-01-11 criteria provided, single submitter clinical testing In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TRPV4-related disease. This sequence change replaces asparagine with isoleucine at codon 150 of the TRPV4 protein (p.Asn150Ile). The asparagine residue is moderately conserved and there is a large physicochemical difference between asparagine and isoleucine.

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