Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000733480 | SCV000861556 | pathogenic | not provided | 2018-06-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000814905 | SCV000955342 | pathogenic | Glycogen storage disease, type II | 2022-05-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 597382). This missense change has been observed in individual(s) with Pompe disease (PMID: 28763149, 23787031, 31086307, 31193175). It is often observed on the same chromosome as c.1642G>T (p.Val548Phe). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 627 of the GAA protein (p.Ser627Phe). |
Genome- |
RCV000814905 | SCV001810634 | uncertain significance | Glycogen storage disease, type II | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000733480 | SCV002025209 | likely pathogenic | not provided | 2023-10-19 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000814905 | SCV004197852 | likely pathogenic | Glycogen storage disease, type II | 2023-03-29 | criteria provided, single submitter | clinical testing |