ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1445G>A (p.Arg482His) (rs72555391)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174679 SCV000226022 pathogenic not provided 2014-03-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586055 SCV000696685 pathogenic GM1 gangliosidosis 2016-08-09 criteria provided, single submitter clinical testing Variant summary: The GLB1 c.1445G>A (p.Arg482His) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 1/120872 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic GLB1 variant (0.0020412). This variant has been reported in multiple patients with Morquio B disease and Gm1-gangliosidosis. Functional testing showed that variant allele with non-detectable enzyme activity. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
OMIM RCV000119099 SCV000021130 pathogenic Mucopolysaccharidosis, MPS-IV-B 1993-05-01 no assertion criteria provided literature only
OMIM RCV000000981 SCV000021131 pathogenic Infantile GM1 gangliosidosis 1993-05-01 no assertion criteria provided literature only
Counsyl RCV000119099 SCV000797872 pathogenic Mucopolysaccharidosis, MPS-IV-B 2018-02-13 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.