Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597525 | SCV000706734 | uncertain significance | not provided | 2017-03-09 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001579119 | SCV001806526 | uncertain significance | Glycogen storage disease, type V | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001579119 | SCV003519904 | uncertain significance | Glycogen storage disease, type V | 2022-05-17 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 424 of the PYGM protein (p.Asp424Glu). This variant is present in population databases (rs372851103, gnomAD 0.02%). 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: 500684). 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: "Benign"; 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, |
RCV001579119 | SCV003810414 | uncertain significance | Glycogen storage disease, type V | 2023-07-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003302918 | SCV003999599 | uncertain significance | Inborn genetic diseases | 2023-05-17 | criteria provided, single submitter | clinical testing | The c.1272C>A (p.D424E) alteration is located in exon 11 (coding exon 11) of the PYGM gene. This alteration results from a C to A substitution at nucleotide position 1272, causing the aspartic acid (D) at amino acid position 424 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |