Submissions for variant NM_003476.5(CSRP3):c.336G>A (p.Ala112=)

gnomAD frequency: 0.07238  dbSNP: rs13451

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037782	SCV000061444	benign	not specified	2008-02-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000037782	SCV000168050	benign	not specified	2012-12-04	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.
PreventionGenetics, part of Exact Sciences	RCV000037782	SCV000309591	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000246047	SCV000317753	benign	Cardiovascular phenotype	2015-06-23	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Illumina Laboratory Services, Illumina	RCV000371114	SCV000369722	benign	Hypertrophic cardiomyopathy 12	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001354194	SCV000603230	benign	not provided	2023-11-27	criteria provided, single submitter	clinical testing
Invitae	RCV000860521	SCV001000593	benign	Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M	2024-02-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170411	SCV001332988	benign	Cardiomyopathy	2019-03-01	criteria provided, single submitter	clinical testing
Cytogenetics- Mohapatra Lab, Banaras Hindu University	RCV000710025	SCV000840397	likely pathogenic	Primary dilated cardiomyopathy	2014-09-23	no assertion criteria provided	case-control
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001354194	SCV001548746	uncertain significance	not provided		no assertion criteria provided	clinical testing	Allele frequency is common in at least one population database (frequency: 11.585% in ExAC) based on the frequency threshold of 5.0% for this gene. Variant was observed in a homozygous state in population databases more than expected for disease. 1 reputable source/s reports the variant as benign, but the evidence is not available to the laboratory to perform an independent evaluation. A synonymous variant not located in a splice region.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000037782	SCV001740971	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037782	SCV001921512	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000037782	SCV001927168	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037782	SCV001958692	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037782	SCV001964700	benign	not specified		no assertion criteria provided	clinical testing