ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.1867del (p.Leu623fs)

dbSNP: rs1890102629
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210665 SCV001382162 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2019-06-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu623Serfs*3) in the TRPV4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TRPV4-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TRPV4 cause disease. 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.
Centogene AG - the Rare Disease Company RCV001210665 SCV002028308 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2021-08-26 criteria provided, single submitter clinical testing

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