ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.202C>T (p.Arg68Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806475 SCV000946478 uncertain significance Charcot-Marie-Tooth disease type 2C 2018-12-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 68 of the TRPV4 protein (p.Arg68Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs199624080, ExAC 0.03%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with TRPV4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably 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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