ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.56G>A (p.Gly19Glu)

gnomAD frequency: 0.00001  dbSNP: rs368522976
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641180 SCV000762818 benign Lethal congenital glycogen storage disease of heart 2023-03-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001524936 SCV001734917 uncertain significance Cardiomyopathy 2023-11-14 criteria provided, single submitter clinical testing This missense variant replaces glycine with glutamic acid at codon 19 of the PRKAG2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in homozygosity in an individual suspected of having a primary electrical disease (PMID: 28341588). This variant has been identified in 2/248682 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
GeneDx RCV001712773 SCV001942773 uncertain significance not provided 2020-08-21 criteria provided, single submitter clinical testing Reported as a likely benign variant in a patient with long QT syndrome (Proost et al., 2017); 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; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 533875; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 28341588)
Ambry Genetics RCV002343276 SCV002647550 uncertain significance Cardiovascular phenotype 2020-08-12 criteria provided, single submitter clinical testing The p.G19E variant (also known as c.56G>A), located in coding exon 1 of the PRKAG2 gene, results from a G to A substitution at nucleotide position 56. The glycine at codon 19 is replaced by glutamic acid, an amino acid with similar properties. This variant was reportedly identified as homozygous in an individual with long QT syndrome (LQTS); however clinical details were limited (Proost D et al. J Mol Diagn, 2017 05;19:445-459). This amino acid position is well conserved in available vertebrate species. 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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