ClinVar Miner

Submissions for variant NM_000154.2(GALK1):c.102_103dup (p.Pro35fs)

dbSNP: rs771067891
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
Counsyl RCV000666168 SCV000790415 likely pathogenic Deficiency of galactokinase 2017-03-20 criteria provided, single submitter clinical testing
Invitae RCV000666168 SCV004547484 pathogenic Deficiency of galactokinase 2023-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro35Argfs*27) in the GALK1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GALK1 are known to be pathogenic (PMID: 7670469, 10790206). This variant is present in population databases (rs771067891, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with GALK1-related conditions. 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.