ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.556C>T (p.Arg186Ter)

gnomAD frequency: 0.00001  dbSNP: rs773622769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693039 SCV000820893 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2023-11-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg186*) 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. This variant is present in population databases (rs773622769, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with TRPV4-related conditions. ClinVar contains an entry for this variant (Variation ID: 571803). 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.
Revvity Omics, Revvity RCV003140096 SCV003821541 uncertain significance not provided 2021-06-14 criteria provided, single submitter clinical testing

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