Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000022078 | SCV000755881 | uncertain significance | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2017-10-12 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with glycine at codon 123 of the GALT protein (p.Arg123Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with galactosinemia (PMID: 9222760). ClinVar contains an entry for this variant (Variation ID: 25147). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. |
Research and Development, |
RCV000022078 | SCV000042754 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2012-12-04 | no assertion criteria provided | clinical testing | Converted during submission to Pathogenic. |