Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001093135 | SCV001249968 | pathogenic | not provided | 2017-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001873460 | SCV002166387 | likely pathogenic | Galactosylceramide beta-galactosidase deficiency | 2023-09-14 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects GALC function (PMID: 27638593). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GALC protein function. ClinVar contains an entry for this variant (Variation ID: 872579). This variant is also known as p.W115R. This missense change has been observed in individual(s) with clinical features of Krabbe disease (PMID: 22520351, 26795590). This variant is present in population databases (rs746507078, gnomAD 0.003%). This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 131 of the GALC protein (p.Trp131Arg). |