ClinVar Miner

Submissions for variant NM_000154.2(GALK1):c.410del (p.Gly137fs)

dbSNP: rs767329054
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667929 SCV000792456 likely pathogenic Deficiency of galactokinase 2017-06-27 criteria provided, single submitter clinical testing
Invitae RCV000667929 SCV001411291 pathogenic Deficiency of galactokinase 2024-01-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly137Valfs*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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with GALK1-related conditions (PMID: 10570908, 20405025). ClinVar contains an entry for this variant (Variation ID: 552633). For these reasons, this variant has been classified as Pathogenic.
3billion RCV000667929 SCV002058230 pathogenic Deficiency of galactokinase 2022-01-03 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000552633, PMID:10570908). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
CeGaT Center for Human Genetics Tuebingen RCV003326487 SCV004033584 pathogenic not provided 2023-07-01 criteria provided, single submitter clinical testing GALK1: PVS1, PM2, PM3, PP4
Baylor Genetics RCV000667929 SCV004197926 pathogenic Deficiency of galactokinase 2023-10-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV000667929 SCV002088896 pathogenic Deficiency of galactokinase 2020-03-13 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.