Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000550169 | SCV000626644 | uncertain significance | Glycogen storage disease, type II | 2022-10-25 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 284 of the GAA protein (p.Ala284Gly). This variant is present in population databases (rs147569830, gnomAD 0.03%). This missense change has been observed in individual(s) with a positive newborn screening result for GAA-related disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 456440). 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. |
Eurofins Ntd Llc |
RCV000732024 | SCV000859900 | uncertain significance | not provided | 2018-02-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000732024 | SCV001803902 | uncertain significance | not provided | 2023-10-17 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22253258, 19343043) |
Genome- |
RCV000550169 | SCV002027241 | uncertain significance | Glycogen storage disease, type II | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000550169 | SCV002813406 | uncertain significance | Glycogen storage disease, type II | 2021-10-14 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000732024 | SCV003828446 | uncertain significance | not provided | 2023-03-10 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000550169 | SCV001453418 | uncertain significance | Glycogen storage disease, type II | 2020-01-24 | no assertion criteria provided | clinical testing |