Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000537803 | SCV000626769 | uncertain significance | Glycogen storage disease type III | 2022-08-21 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 6 of the AGL gene. It does not directly change the encoded amino acid sequence of the AGL protein. This variant is present in population databases (rs372517543, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with AGL-related conditions. ClinVar contains an entry for this variant (Variation ID: 456514). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV000537803 | SCV002776968 | uncertain significance | Glycogen storage disease type III | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000537803 | SCV004049930 | uncertain significance | Glycogen storage disease type III | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003392365 | SCV004121238 | uncertain significance | AGL-related condition | 2023-02-08 | criteria provided, single submitter | clinical testing | The AGL c.846+8T>A variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-100336145-T-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Natera, |
RCV000537803 | SCV002091463 | uncertain significance | Glycogen storage disease type III | 2019-10-28 | no assertion criteria provided | clinical testing |