Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | 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, 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. |