ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.1899C>T (p.Val633=) (rs753027239)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000645560 SCV000767310 likely benign Charcot-Marie-Tooth disease axonal type 2C 2017-12-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756824 SCV000884747 likely benign not provided 2018-04-26 criteria provided, single submitter clinical testing The p.Val633Val variant (rs753027239) does not alter the amino acid sequence of the TRPV4 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with hereditary sensory neuropathy in medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.006 percent in the European Non-Finnish population (identified on 9 out of 125,488 chromosomes). Based on these observations, the p.Val633Val variant is likely to be benign.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173502 SCV001336591 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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