ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.993G>A (p.Ser331=)

gnomAD frequency: 0.00852  dbSNP: rs76956014
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001000333 SCV000291911 benign Brugada syndrome 4 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000249791 SCV000318132 benign Cardiovascular phenotype 2015-08-27 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589174 SCV000700050 benign not provided 2016-08-09 criteria provided, single submitter clinical testing Variant summary: The CACNB2 c.831G>A (p.Ser277Ser) variant causes a synonymous change involving a non-conserved nucleotide. 5/5 splice prediction tools predict no significant impact on normal splicing. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 884/121214 (1/137, 9 homozygotes), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic CACNB2 variant of 1/100000 (0.00001), suggesting this variant is likely a benign polymorphism. A reputable clinical laboratory cites the variant as "benign." Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as Benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000333 SCV001157058 benign Brugada syndrome 4 2023-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000589174 SCV001899829 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000589174 SCV004126522 benign not provided 2024-05-01 criteria provided, single submitter clinical testing CACNB2: BP4, BP7, BS1, BS2

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