Submissions for variant NM_000722.4(CACNA2D1):c.3134A>C (p.Asp1045Ala)

gnomAD frequency: 0.00374  dbSNP: rs35131433

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000243578	SCV000319204	benign	Cardiovascular phenotype	2015-03-09	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
GeneDx	RCV000441503	SCV000532160	likely benign	not specified	2017-12-05	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.
Invitae	RCV001080779	SCV000562238	benign	Brugada syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000845311	SCV000987352	likely benign	not provided		criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000441503	SCV001924885	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000441503	SCV001928290	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000441503	SCV001956447	benign	not specified		no assertion criteria provided	clinical testing