ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.246G>T (p.Gln82His)

gnomAD frequency: 0.00001  dbSNP: rs1182448951
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546706 SCV001766270 uncertain significance not provided 2021-01-08 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002032564 SCV002208794 likely benign Lethal congenital glycogen storage disease of heart 2022-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039277 SCV005026478 uncertain significance Cardiovascular phenotype 2023-12-03 criteria provided, single submitter clinical testing The p.Q82H variant (also known as c.246G>T), located in coding exon 3 of the PRKAG2 gene, results from a G to T substitution at nucleotide position 246. The glutamine at codon 82 is replaced by histidine, 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.

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