Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000821318 | SCV000962072 | uncertain significance | Glycogen storage disease, type II | 2022-02-05 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 866 of the GAA protein (p.Glu866Asp). 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. ClinVar contains an entry for this variant (Variation ID: 663449). 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 not 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. |
Gene |
RCV002290469 | SCV002578561 | uncertain significance | not provided | 2022-04-07 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function |
Ambry Genetics | RCV002537500 | SCV003526649 | uncertain significance | Inborn genetic diseases | 2022-09-16 | criteria provided, single submitter | clinical testing | The c.2598A>C (p.E866D) alteration is located in exon 18 (coding exon 17) of the GAA gene. This alteration results from a A to C substitution at nucleotide position 2598, causing the glutamic acid (E) at amino acid position 866 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV000821318 | SCV001463865 | uncertain significance | Glycogen storage disease, type II | 2020-09-16 | no assertion criteria provided | clinical testing |