ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1496A>G (p.Gln499Arg)

gnomAD frequency: 0.00012  dbSNP: rs781741013
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000866467 SCV001007568 likely benign Lethal congenital glycogen storage disease of heart 2023-12-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001524969 SCV001734955 likely benign Cardiomyopathy 2020-06-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390772 SCV002702016 uncertain significance Cardiovascular phenotype 2021-08-10 criteria provided, single submitter clinical testing The p.Q499R variant (also known as c.1496A>G), located in coding exon 14 of the PRKAG2 gene, results from an A to G substitution at nucleotide position 1496. The glutamine at codon 499 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003480884 SCV004224121 uncertain significance not provided 2022-07-05 criteria provided, single submitter clinical testing

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