ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.218C>T (p.Ser73Leu)

gnomAD frequency: 0.00004  dbSNP: rs755056713
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497797 SCV000589844 uncertain significance not provided 2016-12-21 criteria provided, single submitter clinical testing This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S19L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. However, no missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with arrhythmia (Stenson et al., 2014).
Labcorp Genetics (formerly Invitae), Labcorp RCV001079616 SCV000767963 likely benign Brugada syndrome 4 2023-05-05 criteria provided, single submitter clinical testing

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