Submissions for variant NM_001232.4(CASQ2):c.1005T>C (p.Asn335=)

gnomAD frequency: 0.02116  dbSNP: rs28730712

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037128	SCV000060785	benign	not specified	2012-05-22	criteria provided, single submitter	clinical testing	6.0% (225/3738) Afr Amer chrom (ESP)
Illumina Laboratory Services, Illumina	RCV000404911	SCV000347675	likely benign	Catecholaminergic polymorphic ventricular tachycardia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000305567	SCV000482949	likely benign	Neural tube defect	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV002468987	SCV000482950	likely benign	Caudal regression sequence	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV002513458	SCV000559564	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618441	SCV000735214	benign	Cardiovascular phenotype	2015-09-17	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625324	SCV000744942	benign	Catecholaminergic polymorphic ventricular tachycardia 2	2015-09-21	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000768700	SCV000900070	benign	Cardiomyopathy	2016-07-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625324	SCV001253184	benign	Catecholaminergic polymorphic ventricular tachycardia 2	2018-01-12	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	RCV000625324	SCV001472940	benign	Catecholaminergic polymorphic ventricular tachycardia 2	2023-11-06	criteria provided, single submitter	clinical testing
GeneDx	RCV001705667	SCV001889038	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000625324	SCV004050778	likely benign	Catecholaminergic polymorphic ventricular tachycardia 2	2023-04-11	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037128	SCV001925422	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001705667	SCV001979447	likely benign	not provided		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000404911	SCV003803657	likely benign	Catecholaminergic polymorphic ventricular tachycardia	2022-09-23	no assertion criteria provided	clinical testing