ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.560A>T (p.Asp187Val) (rs997021099)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796371 SCV000935881 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2018-08-16 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 187 of the GALC protein (p.Asp187Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with significantly reduced GALC enzyme activity, findings that are highly specific for Krabbe disease (Pubmed: 20886637). This variant has also been observed in several individuals with GALC-related conditions (PMID: 8687180, 27442402). This variant is also known as Asp171Val in the literature. Experimental studies have shown that this missense change has a deleterious effect on protein function (PMID: 27638593). 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.
Natera, Inc. RCV000796371 SCV001454073 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2020-09-16 no assertion criteria provided 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.