ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1335_1336del (p.Trp446fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231281 SCV001403797 pathogenic Galactosylceramide beta-galactosidase deficiency 2019-10-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp446Alafs*3) in the GALC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Krabbe Disease (PMID: 21824559). This variant is also known as p.W430AfsX3 in the literature. Loss-of-function variants in GALC are known to be pathogenic (PMID: 7437911, 9272171, 16607461). For these reasons, this variant has been classified as Pathogenic.

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.