ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.535C>T (p.Arg179Cys)

gnomAD frequency: 0.00001  dbSNP: rs751647405
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001048344 SCV001212344 likely benign Charcot-Marie-Tooth disease axonal type 2C 2023-07-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811630 SCV001472608 uncertain significance not provided 2020-01-16 criteria provided, single submitter clinical testing The TRPV4 c.535C>T; p.Arg179Cys variant (rs751647405), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in South Asian population with an allele frequency of 0.042% (13/30614 alleles) in the Genome Aggregation Database. The arginine at codon 179 is moderately conserved, and computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Arg179Cys variant is uncertain at this time.
Ambry Genetics RCV002348385 SCV002641541 likely benign Inborn genetic diseases 2020-03-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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