ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.395C>T (p.Pro132Leu) (rs779371027)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622464 SCV000741174 uncertain significance Inborn genetic diseases 2015-10-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Invitae RCV000645539 SCV000767287 uncertain significance Charcot-Marie-Tooth disease type 2C 2018-02-14 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 132 of the TRPV4 protein (p.Pro132Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs779371027, ExAC 0.02%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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