ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.300G>A (p.Lys100=)

gnomAD frequency: 0.00001  dbSNP: rs370135765
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000476486 SCV000560177 likely benign Charcot-Marie-Tooth disease axonal type 2C 2024-04-08 criteria provided, single submitter clinical testing
GeneDx RCV000599877 SCV000721690 likely benign not specified 2017-08-04 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279234 SCV002567116 uncertain significance Connective tissue disorder 2019-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436500 SCV002754180 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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