ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1161+1del

dbSNP: rs1555381417
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 RCV000528992 SCV000627122 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2019-01-17 criteria provided, single submitter clinical testing In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in GALC are known to be pathogenic (PMID: 9272171, 16607461). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a GALC-related disease. This sequence change affects a donor splice site in intron 10 of the GALC gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Natera, Inc. RCV000528992 SCV002093635 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2017-06-20 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.