ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.113del (p.Gly38fs)

dbSNP: rs1349838988
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001382525 SCV001581348 pathogenic Mucopolysaccharidosis type 6 2024-06-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly38Alafs*18) in the ARSB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ARSB are known to be pathogenic (PMID: 17458871, 22133300). This variant is present in population databases (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type VI (PMID: 17458871). This variant is also known as c.114delG. ClinVar contains an entry for this variant (Variation ID: 1070404). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001382525 SCV004209081 pathogenic Mucopolysaccharidosis type 6 2024-01-01 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV001382525 SCV004812789 likely pathogenic Mucopolysaccharidosis type 6 2023-05-05 criteria provided, single submitter clinical testing This sequence change in ARSB is a frameshift variant predicted to cause a premature stop codon, p.(Gly38Alafs*18), in biologically relevant exon 1/8 leading to nonsense-mediated decay in a gene in which loss-of-function is an established disease mechanism (PMID: 17458871). The highest population minor allele frequency in the population database gnomAD v3.1 is 0.003% (2/67,888 alleles) in the European (non-Finnish) population, which is consistent with Mucopolysaccharidosis type VI. To our knowledge, this variant is novel and has not been previously reported in the relevant scientific literature. Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.6.1, this variant is classified as LIKELY PATHOGENIC. Following criteria are met: PVS1, PM2_Supporting.

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.