ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.686C>T (p.Ser229Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692493 SCV000820319 uncertain significance Charcot-Marie-Tooth disease type 2C 2018-05-25 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 229 of the TRPV4 protein (p.Ser229Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TRPV4-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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