ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.592C>T (p.Pro198Ser)

gnomAD frequency: 0.00001  dbSNP: rs753859556
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822131 SCV000962918 likely benign Lethal congenital glycogen storage disease of heart 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169032 SCV003864604 uncertain significance Cardiovascular phenotype 2022-11-27 criteria provided, single submitter clinical testing The p.P198S variant (also known as c.592C>T), located in coding exon 4 of the PRKAG2 gene, results from a C to T substitution at nucleotide position 592. The proline at codon 198 is replaced by serine, an amino acid with 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.

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