ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.194T>C (p.Phe65Ser)

dbSNP: rs1708132892
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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 RCV001308516 SCV001497971 uncertain significance Long QT syndrome 2023-07-18 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1010815). This missense change has been observed in individual(s) with clinical features of CAV3-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 65 of the CAV3 protein (p.Phe65Ser).
Revvity Omics, Revvity RCV003145545 SCV003829263 uncertain significance not provided 2022-01-13 criteria provided, single submitter clinical testing

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