ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.203G>A (p.Arg68His)

dbSNP: rs747215384
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233853 SCV001406467 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2022-08-23 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 960344). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 68 of the TRPV4 protein (p.Arg68His). This variant is present in population databases (rs747215384, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with TRPV4-related conditions.

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