Submissions for variant NM_000726.5(CACNB4):c.1413G>A (p.Arg471=)

gnomAD frequency: 0.00148  dbSNP: rs1805029

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000186610	SCV000167528	benign	not specified	2013-05-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000186610	SCV000202346	benign	not specified	2017-04-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000262971	SCV000417232	benign	Episodic ataxia type 5	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000297125	SCV000417233	likely benign	Juvenile myoclonic epilepsy	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000477503	SCV000562361	benign	Idiopathic generalized epilepsy	2023-01-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000186610	SCV001474888	benign	not specified	2020-06-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001705904	SCV004011209	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	CACNB4: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV004530076	SCV004742800	likely benign	CACNB4-related disorder	2019-03-28	criteria provided, single submitter	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).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001705904	SCV001926682	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001705904	SCV001970720	likely benign	not provided		no assertion criteria provided	clinical testing