Submissions for variant NM_001232.4(CASQ2):c.421-15C>G

dbSNP: rs199939582

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037141	SCV000060798	likely benign	not specified	2012-08-27	criteria provided, single submitter	clinical testing	c.421-15C>G in intron 4 of CASQ2: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence and it has been identified in 0.5% (80/16508) of South Asian chromosomes by the Exom e Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs19993958 2).
GeneDx	RCV000037141	SCV000223467	likely benign	not specified	2018-02-08	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.
Illumina Laboratory Services, Illumina	RCV000625055	SCV000347684	uncertain significance	Catecholaminergic polymorphic ventricular tachycardia 2	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000037141	SCV000740440	uncertain significance	not specified	2016-07-29	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625055	SCV000743630	likely benign	Catecholaminergic polymorphic ventricular tachycardia 2	2014-11-07	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625055	SCV000744946	benign	Catecholaminergic polymorphic ventricular tachycardia 2	2015-09-21	criteria provided, single submitter	clinical testing
Invitae	RCV002513470	SCV002401664	benign	Catecholaminergic polymorphic ventricular tachycardia 1	2024-01-29	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037141	SCV001925065	benign	not specified		no assertion criteria provided	clinical testing