Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000658597 | SCV000780375 | uncertain significance | not provided | 2018-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000658597 | SCV001765484 | uncertain significance | not provided | 2020-10-01 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Invitae | RCV001277988 | SCV003521105 | uncertain significance | Glycogen storage disease, type V | 2022-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 273 of the PYGM protein (p.Ala273Val). This variant is present in population databases (rs768576604, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with PYGM-related conditions. ClinVar contains an entry for this variant (Variation ID: 546669). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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. |
Revvity Omics, |
RCV001277988 | SCV003810376 | uncertain significance | Glycogen storage disease, type V | 2023-02-14 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001277988 | SCV001464973 | uncertain significance | Glycogen storage disease, type V | 2020-04-14 | no assertion criteria provided | clinical testing |