Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001228479 | SCV001400879 | uncertain significance | Glycogen storage disease, type VI | 2019-11-14 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with histidine at codon 243 of the PYGL protein (p.Arg243His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PYGL-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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. |
| 3billion | RCV001228479 | SCV002318645 | uncertain significance | Glycogen storage disease, type VI | 2022-03-22 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.843>=0.6). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline. |