Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000023821 | SCV000746317 | likely pathogenic | D-Glyceric aciduria | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001852029 | SCV002117592 | uncertain significance | not provided | 2022-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 493 of the GLYCTK protein (p.Phe493Cys). This variant is present in population databases (rs121909448, gnomAD 0.06%). This missense change has been observed in individual(s) with D-glyceric aciduria (PMID: 20949620). ClinVar contains an entry for this variant (Variation ID: 30836). 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. Experimental studies have shown that this missense change affects GLYCTK function (PMID: 20949620). 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. |
Gene |
RCV001852029 | SCV002571112 | likely pathogenic | not provided | 2023-06-26 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate F493C damages protein expression with no enzymatic activity (Sass et al., 2010); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31589614, 20949620, 31980526, 34426522) |
Revvity Omics, |
RCV000023821 | SCV003816919 | uncertain significance | D-Glyceric aciduria | 2021-09-08 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000023821 | SCV000045112 | pathogenic | D-Glyceric aciduria | 2010-12-01 | no assertion criteria provided | literature only | |
Universitäts- |
RCV000023821 | SCV000109694 | not provided | D-Glyceric aciduria | no assertion provided | not provided |