ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.952C>G (p.Pro318Ala)

dbSNP: rs1057516642
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
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, Revvity RCV001782868 SCV002024142 pathogenic not provided 2021-08-31 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.