ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.290C>G (p.Pro97Arg)

dbSNP: 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 pathogenic not provided 2024-11-25 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect on ion channel function (PMID: 39021275); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22526352, 36210150, 39021275)
Inherited Neuropathy Consortium RCV000789593 SCV000928949 uncertain significance Neuronopathy, distal hereditary motor, autosomal dominant no assertion criteria provided literature only

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