ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.347G>A (p.Arg116His)

dbSNP: rs369471907
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001236792 SCV001409528 likely benign Lethal congenital glycogen storage disease of heart 2024-10-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451571 SCV002617593 uncertain significance Cardiovascular phenotype 2021-09-26 criteria provided, single submitter clinical testing The p.R116H variant (also known as c.347G>A), located in coding exon 3 of the PRKAG2 gene, results from a G to A substitution at nucleotide position 347. The arginine at codon 116 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV005054348 SCV005688059 uncertain significance not provided 2024-07-31 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function

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