Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000412229 | SCV000485997 | likely pathogenic | Galactosylceramide beta-galactosidase deficiency | 2016-03-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000412229 | SCV001588957 | pathogenic | Galactosylceramide beta-galactosidase deficiency | 2022-12-31 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 318 of the GALC protein (p.Pro318Ala). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects GALC function (PMID: 8595408, 29615819). 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: 370631). This variant is also known as p.Pro302Ala. This missense change has been observed in individual(s) with Krabbe disease (PMID: 24252386). This variant is not present in population databases (gnomAD no frequency). |
Revvity Omics, |
RCV001782868 | SCV002024142 | pathogenic | not provided | 2021-08-31 | criteria provided, single submitter | clinical testing |