ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser)

gnomAD frequency: 0.00001  dbSNP: rs730880970
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158992 SCV000208933 likely benign not specified 2015-04-29 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 RCV000278666 SCV000467666 uncertain significance Lethal congenital glycogen storage disease of heart 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001795281 SCV000467667 uncertain significance Wolff-Parkinson-White pattern 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000390669 SCV000467668 uncertain significance Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001179302 SCV001343933 likely benign Cardiomyopathy 2019-05-22 criteria provided, single submitter clinical testing
Invitae RCV000278666 SCV002144025 likely benign Lethal congenital glycogen storage disease of heart 2023-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415695 SCV002718703 likely benign Cardiovascular phenotype 2021-06-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.