Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001041971 | SCV001205625 | uncertain significance | Glycogen storage disease, type II | 2022-03-19 | criteria provided, single submitter | clinical testing | 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. 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. ClinVar contains an entry for this variant (Variation ID: 840069). This variant has not been reported in the literature in individuals affected with GAA-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 177 of the GAA protein (p.Asn177Thr). |
| Ambry Genetics | RCV005338520 | SCV006001425 | uncertain significance | Cardiovascular phenotype | 2025-03-13 | criteria provided, single submitter | clinical testing | The p.N177T variant (also known as c.530A>C), located in coding exon 1 of the GAA gene, results from an A to C substitution at nucleotide position 530. The asparagine at codon 177 is replaced by threonine, 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. Based on the available evidence, the clinical significance of this variant remains unclear. |