ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.290C>G (p.Pro97Arg) (rs876661124)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000221001 SCV000279605 likely pathogenic not provided 2016-02-02 criteria provided, single submitter clinical testing The P97R variant in the TRPV4 gene has been reported previously as a de novo variant in a patientwith congenital arthrogryposis, vocal cord paralysis and severe scoliosis (Fiorillo et al., 2012).Additionally, functional studies in HeLa cells with the P97R variant revealed that this variant impactsthe function of the protein with a significantly lower response to intracellular calcium (Fiorillo et al.,2012). The P97R variant was not observed in approximately 6500 individuals of European andAfrican American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a commonbenign variant in these populations. The P97R variant is a non-conservative amino acid substitution,which is likely to impact secondary protein structure as these residues differ in polarity, charge, sizeand/or other properties. This substitution occurs at a position that is conserved across species. Insilico analysis is inconsistent in its predictions as to whether or not the variant is damaging to theprotein structure/function. The P97R variant is a strong candidate for a pathogenic variant.
Inherited Neuropathy Consortium RCV000789593 SCV000928949 uncertain significance Autosomal dominant distal hereditary motor neuropathy no assertion criteria provided literature only

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