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

gnomAD frequency: 0.00007  dbSNP: rs373932682

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000170866	SCV000223421	uncertain significance	not provided	2024-07-24	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function; The p.(R242Q) variant 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 (PMID: 25741868)
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