ClinVar Miner

Submissions for variant NM_000154.2(GALK1):c.82C>A (p.Pro28Thr) (rs104894572)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000005984 SCV000792779 pathogenic Deficiency of galactokinase 2017-07-12 criteria provided, single submitter clinical testing
Invitae RCV000005984 SCV000822531 pathogenic Deficiency of galactokinase 2018-01-23 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 28 of the GALK1 protein (p.Pro28Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine. This variant is present in population databases (rs104894572, ExAC 0.02%). This variant has been reported as homozygous in an individuals affected with galactokinase deficiency (PMID: 10521295, 11978883, 10790206, 12647253, 21290184).  This variant has been reported to segregate in families, especially those with Romani heritage (PMID: 10521295, 11978884, 11978883). ClinVar contains an entry for this variant (Variation ID: 5630). Experimental studies have shown that this missense change results in reduced galactokinase activity  (PMID: 10790206). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005984 SCV000026166 pathogenic Deficiency of galactokinase 2004-10-01 no assertion criteria provided literature only

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.