ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.574T>C (p.Cys192Arg)

dbSNP: rs1554087423
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV000677578 SCV000803094 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); Absent from GnomAD (PM2)
Labcorp Genetics (formerly Invitae), Labcorp RCV000677578 SCV001235859 pathogenic Mucopolysaccharidosis type 6 2020-01-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect ARSB protein function (PMID: 8116615). This variant has been observed in individual(s) with mucopolysaccharidosis VI (PMID: 17458871, 8116615, 24107440). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 559798). This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with arginine at codon 192 of the ARSB protein (p.Cys192Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine.
Natera, Inc. RCV000677578 SCV002084978 pathogenic Mucopolysaccharidosis type 6 2020-08-06 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.