ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1143-8T>G

dbSNP: rs431905496
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
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV000000936 SCV000802959 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 (demonstrated nonsense mediated RNA decay; low to no ARSB activity in homozygotes; PS3); Very low frequency in ExAC (PM2); Multiple lines of computational evidence support a deleterious effect on the gene product (PP3); Reputable source identifies as pathogenic (PP5)
Labcorp Genetics (formerly Invitae), Labcorp RCV000000936 SCV002159481 pathogenic Mucopolysaccharidosis type 6 2023-11-07 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the ARSB gene. It does not directly change the encoded amino acid sequence of the ARSB protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs431905496, gnomAD 0.003%). This variant has been observed in individuals with mucopolysaccharidosis type VI (PMID: 16435196, 18406185). ClinVar contains an entry for this variant (Variation ID: 888). Studies have shown that this variant results in skipping of exon 6 and introduces a premature termination codon (PMID: 17643332). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000000936 SCV002810874 pathogenic Mucopolysaccharidosis type 6 2022-03-31 criteria provided, single submitter clinical testing
OMIM RCV000000936 SCV000021086 pathogenic Mucopolysaccharidosis type 6 2007-09-01 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.