ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.187-4G>A

gnomAD frequency: 0.00009  dbSNP: rs752294420
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000927510 SCV001073095 likely benign Lethal congenital glycogen storage disease of heart 2023-06-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001179793 SCV001344572 likely benign Cardiomyopathy 2019-05-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002409195 SCV002722350 uncertain significance Cardiovascular phenotype 2020-09-08 criteria provided, single submitter clinical testing The c.187-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 3 in the PRKAG2 gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004003219 SCV004815726 likely benign Hypertrophic cardiomyopathy 2023-12-18 criteria provided, single submitter clinical testing

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