ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) (rs201101343)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000169649 SCV000221172 likely pathogenic Mucopolysaccharidosis type 6 2014-03-03 criteria provided, single submitter clinical testing The Arg484Gly variant in ARSB has been reported in a patient with mucopolysaccharidosis type VI who also carried a pathogenic variant in trans (compound heterozygous) (Karageorgos et al, 2004). The Arg484Gly variant has been identified in 0.046% (1/2178) of the 1000 Genomes population. However, the presence of this variant in trans configuration with a reported pathogenic variant in an individual with clinical features of mucopolysaccharidosis type VI, increases the likelihood that the Arg484Gly variant is pathogenic. In addition, ARSB protein was not detected by an immunologic quantification assay supporting a deleterious impact to protein function (Karageorgos et al, 2004). In summary, the Arg484Gly variant is likely pathogenic for mucopolysaccharidosis type VI in a recessive manner.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000169649 SCV000802998 uncertain significance Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Very low frequency in GnomAD(PM2)

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.