Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Genomics, |
RCV001261922 | SCV001438055 | pathogenic | Glycogen storage disease, type II | 2020-10-15 | criteria provided, single submitter | clinical testing | The c. 546+2_ 546+5del splice site variant in intron 2 has been reported by Bali et al 2012 PMID: 22252923 |
Invitae | RCV001261922 | SCV003288493 | likely pathogenic | Glycogen storage disease, type II | 2024-01-04 | criteria provided, single submitter | clinical testing | This sequence change affects a splice site in intron 2 of the GAA gene. RNA analysis indicates that disruption of this splice site induces altered splicing and is likely to result in the loss of the initiator methionine. This variant is present in population databases (no rsID available, gnomAD 0.001%). Disruption of this splice site has been observed in individual(s) with Pompe disease (PMID: 22252923, 33741225). ClinVar contains an entry for this variant (Variation ID: 982296). Studies have shown that disruption of this splice site results in skipping of exon 2, and is expected to result in the loss of the initiator methionine (PMID: 31301153). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Mayo Clinic Laboratories, |
RCV003482356 | SCV004228181 | pathogenic | not provided | 2023-05-22 | criteria provided, single submitter | clinical testing | PP4, PM2, PM3, PS3, PVS1 |