Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670717 | SCV000795609 | pathogenic | Glycogen storage disease, type II | 2017-11-10 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001784264 | SCV002023873 | pathogenic | not provided | 2019-12-21 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000670717 | SCV002781875 | likely pathogenic | Glycogen storage disease, type II | 2021-09-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000670717 | SCV004296874 | pathogenic | Glycogen storage disease, type II | 2023-11-17 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 10 of the GAA gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with Pompe disease (PMID: 7881425, 22252923, 33202836). This variant is also known as IVS10 +1GT-CT. ClinVar contains an entry for this variant (Variation ID: 554983). Studies have shown that disruption of this splice site results in skipping of exon 10, but is expected to preserve the integrity of the reading-frame (PMID: 7881425). For these reasons, this variant has been classified as Pathogenic. |