ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) (rs797044680)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790702 SCV000227631 pathogenic not provided 2015-06-01 criteria provided, single submitter clinical testing
Counsyl RCV000176041 SCV000798977 likely pathogenic Deficiency of alpha-mannosidase 2018-04-03 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000176041 SCV000803813 likely pathogenic Deficiency of alpha-mannosidase 2015-07-29 criteria provided, single submitter clinical testing
Invitae RCV000176041 SCV001395669 pathogenic Deficiency of alpha-mannosidase 2019-06-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser802Glnfs*129) in the MAN2B1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals and families affected with clinical features of alpha-mannosidosis (PMID: 22161967, 26048034, 26633546). Loss-of-function variants in MAN2B1 are known to be pathogenic (PMID: 9915946, 22161967). For these reasons, this variant has been classified as Pathogenic.

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.