ClinVar Miner

Submissions for variant NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) (rs149606212)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550006 SCV000629762 other Mucopolysaccharidosis type 7 2018-01-17 criteria provided, single submitter clinical testing This variant is a known pseudodeficiency allele (PMID: 7573038, 19224584). Individuals with this variant can exhibit low beta-glucuronidase activity during enzyme analysis; however, it has been observed as homozygous in population databases and in individuals who did not have clinical evidence of muccopolysacchariduria (PMID: 7573038, 9490302). For these reasons, this variant has been classified as Benign (Pseudodeficiency allele).
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000550006 SCV000743788 uncertain significance Mucopolysaccharidosis type 7 2017-01-16 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000550006 SCV000745200 uncertain significance Mucopolysaccharidosis type 7 2015-07-21 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000550006 SCV000897392 uncertain significance Mucopolysaccharidosis type 7 2018-10-31 criteria provided, single submitter clinical testing
Mendelics RCV000550006 SCV001137379 uncertain significance Mucopolysaccharidosis type 7 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000550006 SCV001322683 uncertain significance Mucopolysaccharidosis type 7 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000550006 SCV000734572 uncertain significance Mucopolysaccharidosis type 7 no assertion criteria provided clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252504 SCV001428261 likely benign Intellectual disability 2019-01-01 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.