ClinVar Miner

Submissions for variant NM_005908.4(MANBA):c.210_213delinsTCTGTAGTTAAGAGACCCATCTG (p.Arg71delinsLeuTer)

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
PreventionGenetics, part of Exact Sciences RCV003404307 SCV004103679 likely pathogenic MANBA-related disorder 2023-08-18 criteria provided, single submitter clinical testing The MANBA c.210_213delinsTCTGTAGTTAAGAGACCCATCTG variant is predicted to result in a frameshift and premature protein termination (p.Arg71Leufs*2). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in MANBA are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005036775 SCV005659903 likely pathogenic Beta-D-mannosidosis 2024-05-13 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.