Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001883863 | SCV002144806 | uncertain significance | Glycogen storage disease, type II | 2021-10-04 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with valine at codon 698 of the GAA protein (p.Ala698Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC 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. |
Fulgent Genetics, |
RCV001883863 | SCV002791974 | uncertain significance | Glycogen storage disease, type II | 2021-10-04 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003146300 | SCV003834102 | uncertain significance | not provided | 2020-11-05 | criteria provided, single submitter | clinical testing |