ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.593C>G (p.Ala198Gly) (rs775317084)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205102 SCV000261030 uncertain significance Charcot-Marie-Tooth disease type 2C 2015-10-03 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 198 of the TRPV4 protein (p.Ala198Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. This variant is present in population databases (ExAC 0.003%) but has not been reported in the literature. 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"). In summary, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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