Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780821 | SCV000918400 | pathogenic | Glycogen storage disease type III | 2017-11-20 | criteria provided, single submitter | clinical testing | Variant summary: The AGL c.4221delA (p.Lys1407AsnfsX8) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.4529dupA, p.Tyr1510X). One in silico tool predicts a damaging outcome for this variant. The variant has been reported in affected individuals in the literature who carry second pathogenic variants and have <10% WT level of AGL enzyme activity (Paesold-Burda_2007, Crushell_2010). This variant is absent in 246038 control chromosomes. Taken together, this variant is classified as pathogenic. |
| Mendelics | RCV000780821 | SCV001135380 | pathogenic | Glycogen storage disease type III | 2019-05-28 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000780821 | SCV001396803 | pathogenic | Glycogen storage disease type III | 2023-07-24 | criteria provided, single submitter | clinical testing | 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.Lys1407Asnfs*8) 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 premature translational stop signal has been observed in individual(s) with glycogen storage disease type III (PMID: 17994282, 20490926). ClinVar contains an entry for this variant (Variation ID: 633033). For these reasons, this variant has been classified as Pathogenic. |
| Genome- |
RCV000780821 | SCV002055510 | pathogenic | Glycogen storage disease type III | 2021-07-15 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000780821 | SCV004211257 | pathogenic | Glycogen storage disease type III | 2023-07-19 | criteria provided, single submitter | clinical testing |