ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) (rs749465732)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV000656128 SCV000609482 pathogenic Mucopolysaccharidosis type 6 2015-12-01 criteria provided, single submitter research
SIB Swiss Institute of Bioinformatics RCV000656128 SCV000787487 likely pathogenic Mucopolysaccharidosis type 6 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Likely Pathogenic, for Mucopolysaccharidosis type VI, Autosomal Recessive inheritance. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PS3 => Well-established functional studies show a deleterious effect (PMID:18406185). PM3 => For recessive disorders, detected in trans with a pathogenic variant (PMID:19259130).
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000656128 SCV000803033 likely pathogenic Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation In vitro functional studies supportive of a damaging effect on the gene product (low to no ARSB activity in homozygotes; PS3); Very low frequence in ExAC (PM2)
Invitae RCV000656128 SCV001579936 pathogenic Mucopolysaccharidosis type 6 2020-02-29 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 82 of the ARSB protein (p.Leu82Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 17643332, 19259130). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 445290). This variant has been reported to affect ARSB protein function (PMID: 18406185). 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.