Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672409 | SCV000797510 | likely pathogenic | Glycogen storage disease type III | 2018-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000672409 | SCV003523435 | pathogenic | Glycogen storage disease type III | 2023-08-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 556408). This premature translational stop signal has been observed in individual(s) with glycogen storage disease III (PMID: 23430490). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Asn1304Ilefs*10) 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- |
RCV000672409 | SCV004050074 | likely pathogenic | Glycogen storage disease type III | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genetics and Molecular Pathology, |
RCV000672409 | SCV004175271 | pathogenic | Glycogen storage disease type III | 2022-10-18 | criteria provided, single submitter | clinical testing | The AGL c.3911del variant is classified as PATHOGENIC (PVS1, PM2, PP4) This AGL c.3911del variant is located in exon 29/34 and is predicted to cause a shift in the reading frame at codon 1304, truncating a significant proportion of the wild type AGL protein which is 1532 amino acids in length (PVS1). The variant is rare in population databases (gnomAD allele frequency = 0.0013%; 2 het and 0 hom in 151,528 sequenced alleles) (PM2). The variant has been reported in dbSNP (rs745757264) and in the HGMD database (2022.3): CD128736. It has been reported as likely pathogenic by other diagnostic laboratories (ClinVar Variation ID: 556408). The variant has been reported in the scientific literature in two brothers with GSD III who were both homozygous for the variant. Enzymatic analysis demonstrated no GDE activity, and the authors predict the variant to be pathogenic. (PMID: 23430490) (PP4). |