ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.472G>A (p.Val158Met) (rs746905653)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518233 SCV000615859 uncertain significance not specified 2017-07-25 criteria provided, single submitter clinical testing
Invitae RCV000807452 SCV000947505 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2019-03-28 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 158 of the TRPV4 protein (p.Val158Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs746905653, ExAC 0.009%). This variant has not been reported in the literature in individuals with TRPV4-related conditions. ClinVar contains an entry for this variant (Variation ID: 448710). 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: "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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