Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001958884 | SCV002243455 | pathogenic | Glycogen storage disease, type II | 2021-11-24 | criteria provided, single submitter | clinical testing | Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Asp459 amino acid residue in GAA. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. A different variant (c.1375G>A) giving rise to the same protein effect has been determined to be pathogenic (PMID: 18458862, 21484825, 21757382). This suggests that this variant is also likely to be causative of disease. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 459 of the GAA protein (p.Asp459Asn). |