Submissions for variant NM_016203.4(PRKAG2):c.1623T>C (p.Ile541=)

gnomAD frequency: 0.03936  dbSNP: rs28763998

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038923	SCV000062601	benign	not specified	2009-01-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000038923	SCV000312625	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000250289	SCV000318776	benign	Cardiovascular phenotype	2014-12-08	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.
Illumina Laboratory Services, Illumina	RCV000388465	SCV000467619	benign	Hypertrophic cardiomyopathy 6	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.
Illumina Laboratory Services, Illumina	RCV000277741	SCV000467620	benign	Wolff-Parkinson-White pattern	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.
Invitae	RCV000331581	SCV000561803	benign	Lethal congenital glycogen storage disease of heart	2024-02-01	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000776063	SCV000910711	benign	Cardiomyopathy	2018-03-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000675708	SCV001866859	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675708	SCV000801422	benign	not provided	2017-05-17	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038923	SCV001922453	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038923	SCV001953803	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038923	SCV001972913	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV003125869	SCV003803052	benign	Hypertrophic cardiomyopathy	2022-09-29	no assertion criteria provided	clinical testing