Submissions for variant NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=)

gnomAD frequency: 0.00280  dbSNP: rs114079815

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154321	SCV000203983	benign	not specified	2011-12-06	criteria provided, single submitter	clinical testing	Thr432Thr in Exon 12 of PRKAG2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence and has been identified in 0.9% (33/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs114079815).
Eurofins Ntd Llc (ga)	RCV000154321	SCV000225669	benign	not specified	2014-12-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000243179	SCV000318471	benign	Cardiovascular phenotype	2016-11-25	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.
Invitae	RCV001085535	SCV000561813	benign	Lethal congenital glycogen storage disease of heart	2024-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000586524	SCV000699416	benign	not provided	2016-04-18	criteria provided, single submitter	clinical testing	Variant summary: The c.1296G>A variant affects a non-conserved nucleotide, resulting in synonymous amino acid change. 5/5 in-silico tools via Alamut predict that this variant does not affect normal splicing. This variant is found in 98/121412 control chromosomes from ExAC at a frequency of 0.0008072, which is about 32 times greater than the maximal expected frequency of a pathogenic allele (0.000025), suggesting this variant is benign. Multiple clinical labs have classified this variant as benign. In addition, one internal sample carrying this variant also carried a pathogenic variant in TTR (p.V142I), further supporting benign outcome. Taken together, this variant has been classified as Benign.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770259	SCV000901691	benign	Cardiomyopathy	2017-05-31	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000770259	SCV001346137	benign	Cardiomyopathy	2018-04-13	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000586524	SCV001471594	benign	not provided	2019-08-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000586524	SCV001911016	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000586524	SCV004010744	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	PRKAG2: BP4, BP7, BS2
Clinical Genetics, Academic Medical Center	RCV000154321	SCV001924621	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000154321	SCV001929950	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000154321	SCV001973825	benign	not specified		no assertion criteria provided	clinical testing