ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.1570TTC[2] (p.Phe526del)

dbSNP: rs1393630996
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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 RCV001228333 SCV001400728 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2023-06-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 955652). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with TRPV4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant, c.1576_1578del, results in the deletion of 1 amino acid(s) of the TRPV4 protein (p.Phe526del), but otherwise preserves the integrity of the reading frame.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276667 SCV002567099 uncertain significance Connective tissue disorder 2022-03-17 criteria provided, single submitter clinical testing

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