ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.1846C>T (p.Arg616Ter)

gnomAD frequency: 0.00005  dbSNP: rs545966662
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172889 SCV001335964 likely pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV002411666 SCV002715130 likely benign Inborn genetic diseases 2022-10-04 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.
Invitae RCV002559655 SCV003446017 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2023-08-03 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 916858). This premature translational stop signal has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 32376792). This variant is present in population databases (rs545966662, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Arg616*) in the TRPV4 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TRPV4 cause disease.

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