Submissions for variant NM_001232.4(CASQ2):c.1185C>T (p.Asp395=)

gnomAD frequency: 0.39681  dbSNP: rs7413162

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037133	SCV000060790	benign	not specified	2012-04-10	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000037133	SCV000202360	benign	not specified	2014-01-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000037133	SCV000223441	benign	not specified	2014-07-10	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	RCV000037133	SCV000307075	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000243047	SCV000317406	benign	Cardiovascular phenotype	2015-06-19	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	RCV000316256	SCV000347668	likely benign	Catecholaminergic polymorphic ventricular tachycardia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV002468989	SCV000482945	likely benign	Caudal regression sequence	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000301959	SCV000482946	likely benign	Neural tube defect	2016-06-14	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000605069	SCV000744940	benign	Catecholaminergic polymorphic ventricular tachycardia 2	2015-09-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000605069	SCV001259005	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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000037133	SCV001433077	benign	not specified	2020-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV002513462	SCV001721906	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000605069	SCV004050756	likely benign	Catecholaminergic polymorphic ventricular tachycardia 2	2023-04-11	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000605069	SCV000733939	benign	Catecholaminergic polymorphic ventricular tachycardia 2		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037133	SCV001920669	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000316256	SCV003803659	likely benign	Catecholaminergic polymorphic ventricular tachycardia	2022-09-23	no assertion criteria provided	clinical testing