Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000631101 | SCV000752095 | likely benign | Glycogen storage disease, type II | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003302985 | SCV003989441 | uncertain significance | Cardiovascular phenotype | 2023-04-03 | criteria provided, single submitter | clinical testing | The c.1743C>T variant (also known as p.I581I), located in coding exon 11 of the GAA gene, results from a C to T substitution at nucleotide position 1743. This nucleotide substitution does not change the isoleucine at codon 581. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003918005 | SCV004735417 | likely benign | GAA-related condition | 2020-11-23 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |