ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1298C>G (p.Pro433Arg)

gnomAD frequency: 0.00017  dbSNP: rs200764884
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483478 SCV000573463 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing The P379R variant of uncertain significance in the CACNB2 gene has not been published as pathogenic or benign to our knowledge. This 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 also occurs at a position that is conserved across species. Furthermore, in silico analysis predicts P379R is probably damaging to the protein structure/function. Nevertheless, the Exome aggregation Consortium has observed P379R in approximately 0.17% of alleles from individuals of Finnish background, indicating it may be a rare benign variant in this population.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001504918 SCV001709805 likely benign Brugada syndrome 4 2020-10-27 criteria provided, single submitter clinical testing

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