ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.236T>G (p.Leu79Arg)

gnomAD frequency: 0.00001  dbSNP: rs121909282
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246513 SCV001419871 uncertain significance Long QT syndrome 2019-11-08 criteria provided, single submitter clinical testing This variant has been reported to affect CAV3 protein function (PMID: 17275750). 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. This sequence change replaces leucine with arginine at codon 79 of the CAV3 protein (p.Leu79Arg). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with sudden infant death syndrome (PMID: 17275750). ClinVar contains an entry for this variant (Variation ID: 8296).
OMIM RCV000008794 SCV000029004 pathogenic Long QT syndrome 9 2007-02-01 no assertion criteria provided literature only
Leiden Muscular Dystrophy (CAV3) RCV000024434 SCV000045729 not provided not provided 2012-04-15 no assertion provided curation

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