Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000497957 | SCV000589664 | pathogenic | not provided | 2022-07-13 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 27460348, 19754354, 20648714, 26885414, 23649758, 29809327, 22035446, 23507172, 25602008, 28888851, 31589614) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590818 | SCV000697532 | pathogenic | Glycogen storage disease IIIa | 2016-12-30 | criteria provided, single submitter | clinical testing | Variant summary: The AGL c.3216_3217delGA (p.Glu1072Aspfs) variant results in a premature termination codon, predicted to cause a truncated or absent AGL protein due to nonsense mediated decay, which are commonly known mechanisms for disease. This variant was found in 1/121086 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic AGL variant (0.0022822). The variant was reported in numerous affected individuals and was shown to result in no AGL activity in peripheral leukocytes. Taken together, this variant is classified as pathogenic. |
Eurofins Ntd Llc |
RCV000497957 | SCV000701400 | pathogenic | not provided | 2016-09-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000596959 | SCV000834601 | pathogenic | Glycogen storage disease type III | 2024-01-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu1072Aspfs*36) 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). This variant is present in population databases (rs771069887, gnomAD 0.009%). This premature translational stop signal has been observed in individuals with glycogen storage disease type III (PMID: 20648714, 22035446, 28888851). ClinVar contains an entry for this variant (Variation ID: 432008). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000596959 | SCV002055494 | pathogenic | Glycogen storage disease type III | 2021-07-15 | criteria provided, single submitter | clinical testing | |
DASA | RCV000596959 | SCV002061252 | pathogenic | Glycogen storage disease type III | 2022-01-05 | criteria provided, single submitter | clinical testing | The c.3216_3217del;p.(Glu1072Aspfs*36) is a null frameshift variant (NMD) in the AGL gene and predicts alteration of the nonsense-mediate decay - NMD is present in a relevantexon to the transcript -PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 432008; PMID: 20648714; 22035446; 28888851) - PS4. The variant is present at low allele frequencies population databases (rs771069887– gnomAD 0.003286%; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2_supporting. The p.(Glu1072Aspfs*36) was detected in trans with a pathogenic variant (PMID: 28888851) - PM3. In summary, the currently available evidence indicates that the variant is pathogenic. |
Fulgent Genetics, |
RCV000596959 | SCV002799151 | pathogenic | Glycogen storage disease type III | 2022-02-08 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000596959 | SCV004216816 | pathogenic | Glycogen storage disease type III | 2023-09-19 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000596959 | SCV001132329 | likely pathogenic | Glycogen storage disease type III | 2015-07-11 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000596959 | SCV001456540 | pathogenic | Glycogen storage disease type III | 2020-09-16 | no assertion criteria provided | clinical testing |