Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734536 | SCV000862686 | uncertain significance | not provided | 2018-07-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000814138 | SCV000954539 | uncertain significance | Glycogen storage disease, type II | 2022-07-19 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 722 of the GAA protein (p.Thr722Ser). 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: 598200). 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. |
Genome- |
RCV000814138 | SCV002027297 | uncertain significance | Glycogen storage disease, type II | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002424746 | SCV002731324 | uncertain significance | Cardiovascular phenotype | 2021-07-18 | criteria provided, single submitter | clinical testing | The p.T722S variant (also known as c.2164A>T), located in coding exon 14 of the GAA gene, results from an A to T substitution at nucleotide position 2164. The threonine at codon 722 is replaced by serine, an amino acid with similar 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, |
RCV000814138 | SCV002787294 | uncertain significance | Glycogen storage disease, type II | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000814138 | SCV002092105 | uncertain significance | Glycogen storage disease, type II | 2020-12-29 | no assertion criteria provided | clinical testing |