ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.593C>G (p.Pro198Arg)

dbSNP: rs41317142
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054760 SCV001219110 likely benign Lethal congenital glycogen storage disease of heart 2023-12-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001177642 SCV001341885 likely benign Cardiomyopathy 2019-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002355041 SCV002649943 uncertain significance Cardiovascular phenotype 2022-05-27 criteria provided, single submitter clinical testing The p.P198R variant (also known as c.593C>G), located in coding exon 4 of the PRKAG2 gene, results from a C to G substitution at nucleotide position 593. The proline at codon 198 is replaced by arginine, an amino acid with dissimilar properties. This variant was described in three individuals from a PRKAG2 study, at least some of whom had related cardiac findings but details were limited (Lopez-Sainz A et al. J Am Coll Cardiol, 2020 07;76:186-197). This variant was also reported as de novo in one individual from a neurodevelopmental cohort; however, cardiac phenotype was not provided, and this individual had additional de novo variants detected (Turner TN et al. Am J Hum Genet, 2019 12;105:1274-1285). This amino acid position is highly 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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