Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001546706 | SCV001766270 | uncertain significance | not provided | 2021-01-08 | criteria provided, single submitter | clinical testing | 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; Has not been previously published as pathogenic or benign to our knowledge |
Labcorp Genetics |
RCV002032564 | SCV002208794 | likely benign | Lethal congenital glycogen storage disease of heart | 2022-08-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004039277 | SCV005026478 | uncertain significance | Cardiovascular phenotype | 2023-12-03 | criteria provided, single submitter | clinical testing | The p.Q82H variant (also known as c.246G>T), located in coding exon 3 of the PRKAG2 gene, results from a G to T substitution at nucleotide position 246. The glutamine at codon 82 is replaced by histidine, an amino acid with highly 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. |