Submissions for variant NM_016203.4(PRKAG2):c.1584+7C>T

gnomAD frequency: 0.00086  dbSNP: rs111627309

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038918	SCV000062596	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	1584+7C>T in intron 14 of the PRKAG2: This variant is not expected to have clin ical significance because it is not located within the splicing consensus sequen ce. It has been identified in 0.2% (12/7020) of European American chromosomes fr om a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washi ngton.edu/EVS; dbSNP rs111627309). 1584+7C>T in intron 14 of the PRKAG2 (rs1116 27309; allele frequency = 0.2%, 12/7020) **
Labcorp Genetics (formerly Invitae), Labcorp	RCV000206339	SCV000261769	benign	Lethal congenital glycogen storage disease of heart	2025-01-31	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770258	SCV000901690	likely benign	Cardiomyopathy	2017-07-17	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000038918	SCV001157589	benign	not specified	2018-09-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001162964	SCV001324961	uncertain significance	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, 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.
Illumina Laboratory Services, Illumina	RCV001165044	SCV001327211	uncertain significance	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, 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.
GeneDx	RCV001529655	SCV001883057	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001529655	SCV002545579	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	PRKAG2: BP4, BS1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529655	SCV001743474	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038918	SCV001922952	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001529655	SCV001930039	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038918	SCV001951421	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038918	SCV001963743	benign	not specified		no assertion criteria provided	clinical testing