ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1214-2A>T

dbSNP: rs1554069808
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001068376 SCV001233484 likely pathogenic Mucopolysaccharidosis type 6 2019-04-29 criteria provided, single submitter clinical testing Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ARSB are known to be pathogenic (PMID: 17458871, 22133300). Disruption of this splice site has been observed in an individual affected with mucopolysaccharidosis type VI (PMID: 17161971). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 6 of the ARSB gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV001068376 SCV004209169 pathogenic Mucopolysaccharidosis type 6 2023-08-24 criteria provided, single submitter 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.