ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.935C>T (p.Ala312Val) (rs751139506)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699390 SCV000828097 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2018-04-06 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 312 of the TRPV4 protein (p.Ala312Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs751139506, ExAC 0.01%). 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Institute of Human Genetics,Klinikum rechts der Isar RCV000699390 SCV001149970 likely pathogenic Charcot-Marie-Tooth disease axonal type 2C 2020-01-16 criteria provided, single submitter clinical testing

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