Submissions for variant NM_001103.4(ACTN2):c.2649G>A (p.Ala883=)

gnomAD frequency: 0.00066  dbSNP: rs146426213

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036906	SCV000060561	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Ala883Ala in exon 21 of ACTN2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.1% (6/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs146426213).
Illumina Laboratory Services, Illumina	RCV000351865	SCV000355953	uncertain significance	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000470490	SCV000563568	benign	Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy	2024-01-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619154	SCV000736328	likely benign	Cardiovascular phenotype	2016-01-25	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001610322	SCV001157057	benign	not provided	2020-12-17	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000036906	SCV001467926	benign	not specified	2020-12-06	criteria provided, single submitter	clinical testing
GeneDx	RCV001610322	SCV001834275	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798110	SCV002042969	benign	Cardiomyopathy	2019-09-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001610322	SCV004126183	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	ACTN2: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000603998	SCV000734016	likely benign	Dilated cardiomyopathy 1AA		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000036906	SCV001923156	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001610322	SCV001932403	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036906	SCV001955319	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001610322	SCV001969663	likely benign	not provided		no assertion criteria provided	clinical testing