Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000266365 | SCV000344999 | uncertain significance | not provided | 2016-08-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000631058 | SCV000752048 | uncertain significance | Glycogen storage disease, type II | 2022-08-15 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 24 of the GAA protein (p.Ala24Thr). This variant is present in population databases (rs139716763, gnomAD 0.009%). 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: 290440). 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. |
Genome- |
RCV000631058 | SCV002027199 | uncertain significance | Glycogen storage disease, type II | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002365324 | SCV002664141 | uncertain significance | Cardiovascular phenotype | 2022-01-10 | criteria provided, single submitter | clinical testing | The p.A24T variant (also known as c.70G>A), located in coding exon 1 of the GAA gene, results from a G to A substitution at nucleotide position 70. The alanine at codon 24 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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. |
Revvity Omics, |
RCV000266365 | SCV003834090 | uncertain significance | not provided | 2019-05-23 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000631058 | SCV001463464 | uncertain significance | Glycogen storage disease, type II | 2020-01-24 | no assertion criteria provided | clinical testing |