ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.176del (p.Gly59fs)

dbSNP: rs1567019327
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 RCV001383049 SCV001582067 pathogenic Galactosylceramide beta-galactosidase deficiency 2020-07-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly59Alafs*13) in the GALC gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in individual(s) with Krabbe disease (PMID: 22704718). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.175delG 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.
Revvity Omics, Revvity RCV001780318 SCV002024143 pathogenic not provided 2020-08-05 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.