CAV3 encodes Caveolin-3, a scaffolding protein present in cardiomyocyte caveolae and may be involved in ion channel regulation. Vatta et al. were the first, using a candidate-gene approach, to identify missense variants in CAV3, including putative de-novo variants (paternity not clearly confirmed), in patients with genotype-negative LQTS (PMID 17060380). Overall, however, there have been few studies published which support this gene-disease association and some of the variants in the literature are now known to be relatively frequent in populations, making them very unlikely to be a rare cause of rare disease. Furthermore, no segregation or case-control data is available. Accordingly, the Working Group classified the level of evidence for association of CAV3 with LQTS as limited. Note: All LQTS genes were curated by 3 separate blinded teams. The evidence and scores reached by these 3 teams were reviewed by the LQTS Clinical Domain Expert Panel. For a detailed discussion of this group's work and the separate scores of the 3 teams please see "Adler et al. An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome. Circulation 2020;141(6):418-428. doi: 10.1161/CIRCULATIONAHA.119.043132”
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