ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.2432C>T (p.Ser811Leu) (rs756076344)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689364 SCV000817012 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2018-07-20 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 811 of the TRPV4 protein (p.Ser811Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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