Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000272130 | SCV000334153 | uncertain significance | not provided | 2015-08-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000000448 | SCV003439536 | uncertain significance | Glycogen storage disease type X | 2022-05-05 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 90 of the PGAM2 protein (p.Arg90Trp). This variant is present in population databases (rs104894034, gnomAD 0.005%). This missense change has been observed in individual(s) with phosphoglycerate mutase deficiency (PMID: 8447317). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 420). 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. 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. |
OMIM | RCV000000448 | SCV000020597 | pathogenic | Glycogen storage disease type X | 1993-03-01 | no assertion criteria provided | literature only |