Submissions for variant NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)

gnomAD frequency: 0.00074  dbSNP: rs1805031

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000487686	SCV000240399	benign	not provided	2019-01-16	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 10762541)
Illumina Laboratory Services, Illumina	RCV000298698	SCV000417250	likely benign	Juvenile myoclonic epilepsy	2016-06-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000487686	SCV000575234	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	CACNB4: PP3, BS1
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081010	SCV000632030	likely benign	Idiopathic generalized epilepsy	2023-09-25	criteria provided, single submitter	clinical testing
Mendelics	RCV000298698	SCV001135982	uncertain significance	Juvenile myoclonic epilepsy	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000008047	SCV001288668	benign	Episodic ataxia type 5	2018-03-06	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.
OMIM	RCV000008046	SCV000028251	risk factor	Epilepsy, idiopathic generalized, susceptibility to, 9	2000-05-01	no assertion criteria provided	literature only
OMIM	RCV000008047	SCV000028252	pathogenic	Episodic ataxia type 5	2000-05-01	no assertion criteria provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000487686	SCV001742577	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000487686	SCV001929273	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000487686	SCV001965430	uncertain significance	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004532307	SCV004726725	likely benign	CACNB4-related disorder	2023-04-26	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).