Submissions for variant NM_016203.4(PRKAG2):c.147C>T (p.Asp49=)

gnomAD frequency: 0.00005  dbSNP: rs761196275

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001087270	SCV001002832	likely benign	Lethal congenital glycogen storage disease of heart	2023-10-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000862337	SCV001155326	likely benign	not provided	2022-04-01	criteria provided, single submitter	clinical testing	PRKAG2: BP4, BP7
Color Diagnostics, LLC DBA Color Health	RCV001192142	SCV001360124	likely benign	Cardiomyopathy	2019-01-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000862337	SCV001811204	likely benign	not provided	2019-11-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390743	SCV002699570	likely benign	Cardiovascular phenotype	2019-05-17	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Fulgent Genetics, Fulgent Genetics	RCV002487889	SCV002795438	likely benign	Lethal congenital glycogen storage disease of heart; Hypertrophic cardiomyopathy 6; Wolff-Parkinson-White pattern	2021-08-25	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001192142	SCV004239612	likely benign	Cardiomyopathy	2023-04-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003892785	SCV004714219	likely benign	PRKAG2-related condition	2020-09-22	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV001701453	SCV001926007	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000862337	SCV001932150	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000862337	SCV001975417	likely benign	not provided		no assertion criteria provided	clinical testing