Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001242840 | SCV001415955 | uncertain significance | Glycogen storage disease, type V | 2022-05-31 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 50 of the PYGM protein (p.Arg50Gln). This variant is present in population databases (rs758175735, 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: 967832). 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. |
Ambry Genetics | RCV002564046 | SCV003725100 | uncertain significance | Inborn genetic diseases | 2022-11-10 | criteria provided, single submitter | clinical testing | The c.149G>A (p.R50Q) alteration is located in exon 1 (coding exon 1) of the PYGM gene. This alteration results from a G to A substitution at nucleotide position 149, causing the arginine (R) at amino acid position 50 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV001242840 | SCV003810357 | uncertain significance | Glycogen storage disease, type V | 2020-09-14 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001242840 | SCV002092352 | uncertain significance | Glycogen storage disease, type V | 2020-12-18 | no assertion criteria provided | clinical testing |