ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.380C>T (p.Thr127Ile)

dbSNP: rs878854385
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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 RCV001212332 SCV001383913 uncertain significance Long QT syndrome 2022-03-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CAV3-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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 942355). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 127 of the CAV3 protein (p.Thr127Ile).
Revvity Omics, Revvity RCV003145390 SCV003829262 uncertain significance not provided 2021-05-17 criteria provided, single submitter clinical testing

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