Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000549777 | SCV000626730 | uncertain significance | Glycogen storage disease type III | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine with isoleucine at codon 1182 of the AGL protein (p.Met1182Ile). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with AGL-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
Ambry Genetics | RCV002527672 | SCV003601441 | uncertain significance | Inborn genetic diseases | 2022-01-04 | criteria provided, single submitter | clinical testing | The c.3546G>A (p.M1182I) alteration is located in exon 26 (coding exon 25) of the AGL gene. This alteration results from a G to A substitution at nucleotide position 3546, causing the methionine (M) at amino acid position 1182 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Genome- |
RCV000549777 | SCV004050053 | uncertain significance | Glycogen storage disease type III | 2023-04-11 | criteria provided, single submitter | clinical testing |