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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