ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.949del (p.Gln317fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003613237 SCV004504681 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2023-03-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln317Argfs*59) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TRPV4-related conditions. 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.

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