Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409510 | SCV000486144 | likely pathogenic | Glycogen storage disease type III | 2016-04-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000409510 | SCV002240674 | pathogenic | Glycogen storage disease type III | 2022-12-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 370750). This variant is also known as c.1117_1120del. This premature translational stop signal has been observed in individual(s) with glycogen storage disease (PMID: 11757581). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn390Ilefs*26) in the AGL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AGL are known to be pathogenic (PMID: 19299494). |
Genome- |
RCV000409510 | SCV004049953 | likely pathogenic | Glycogen storage disease type III | 2023-04-11 | criteria provided, single submitter | clinical testing |