ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.1116G>A (p.Ser372=)

gnomAD frequency: 0.00002  dbSNP: rs369811541
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420522 SCV000534920 likely benign not specified 2017-08-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000874112 SCV001016242 likely benign Charcot-Marie-Tooth disease axonal type 2C 2024-09-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436350 SCV002747639 likely benign Inborn genetic diseases 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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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