ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.707T>C (p.Leu236Pro) (rs118203940)

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 RCV000677586 SCV000803103 uncertain significance Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Absent from GnomAD (PM2); Reputable source identifies as pathogenic (PP5)
Invitae RCV000677586 SCV001586726 pathogenic Mucopolysaccharidosis type 6 2020-10-08 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 236 of the ARSB protein (p.Leu236Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) withmucopolysaccharidosis type VI (PMID: 1550123, 14974081). ClinVar contains an entry for this variant (Variation ID: 879). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ARSB protein function. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000000927 SCV000021077 pathogenic Mucopolysaccharidosis, type vi, mild 1992-04-01 no assertion criteria provided literature only

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.