ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.804+665G>A

gnomAD frequency: 0.00007  dbSNP: rs373932682
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170866 SCV000223421 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Identified independently and in conjunction with additional variants in individuals referred for cardiac genetic testing at GeneDx; segregation data is limited or absent at this time; In silico analysis supports that this missense variant does not alter protein structure/function; p.(R242Q) is located in an alternative transcript of the CACNB2 gene in which no definitive pathogenic variants have been reported in association with cardiogenetic disorders (HGMD); Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015)
CSER _CC_NCGL, University of Washington RCV000590907 SCV000700095 uncertain significance Brugada syndrome 2016-10-01 criteria provided, single submitter research Found in patient having exome sequencing for an unrelated indication. No known history of Brugada syndrome. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review.
Fulgent Genetics, Fulgent Genetics RCV002478535 SCV002784144 uncertain significance Brugada syndrome 4 2021-08-24 criteria provided, single submitter clinical testing

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