Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001906717 | SCV002168955 | uncertain significance | Glycogen storage disease, type II | 2022-08-22 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 608 of the GAA protein (p.Arg608Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GAA-related conditions. 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 expected to disrupt GAA 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 | RCV002407047 | SCV002711097 | uncertain significance | Cardiovascular phenotype | 2024-04-27 | criteria provided, single submitter | clinical testing | The p.R608L variant (also known as c.1823G>T), located in coding exon 12 of the GAA gene, results from a G to T substitution at nucleotide position 1823. The arginine at codon 608 is replaced by leucine, an amino acid with dissimilar 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. |
| Fulgent Genetics, |
RCV001906717 | SCV002781140 | uncertain significance | Glycogen storage disease, type II | 2021-12-21 | criteria provided, single submitter | clinical testing |