Submissions for variant NM_201596.3(CACNB2):c.1553A>C (p.Glu518Ala)

gnomAD frequency: 0.00079  dbSNP: rs138060429

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704241	SCV000223426	likely benign	not provided	2021-05-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000244354	SCV000320137	likely benign	Cardiovascular phenotype	2018-12-26	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000536080	SCV000647061	likely benign	Brugada syndrome 4	2024-01-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003907537	SCV004724609	likely benign	CACNB2-related disorder	2021-01-09	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).