ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.148G>A (p.Gly50Arg)

gnomAD frequency: 0.00001  dbSNP: rs1430071393
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231860 SCV001404395 uncertain significance Lethal congenital glycogen storage disease of heart 2023-10-14 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 50 of the PRKAG2 protein (p.Gly50Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PRKAG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 958655). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PRKAG2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003246785 SCV003965309 uncertain significance Inborn genetic diseases 2023-03-31 criteria provided, single submitter clinical testing The c.148G>A (p.G50R) alteration is located in exon 2 (coding exon 2) of the PRKAG2 gene. This alteration results from a G to A substitution at nucleotide position 148, causing the glycine (G) at amino acid position 50 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003393901 SCV004111118 uncertain significance PRKAG2-related condition 2023-07-24 criteria provided, single submitter clinical testing The PRKAG2 c.148G>A variant is predicted to result in the amino acid substitution p.Gly50Arg. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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