ClinVar Miner

Submissions for variant NM_004531.5(MOCS2):c.346_349del (p.Val116fs)

dbSNP: rs398122798
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
Illumina Laboratory Services, Illumina RCV000288995 SCV000457865 uncertain significance Combined molybdoflavoprotein enzyme deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003546452 SCV004274774 pathogenic not provided 2023-10-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val116Asnfs*3) in the MOCS2B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MOCS2B are known to be pathogenic (PMID: 21031595). This variant is present in population databases (rs398122798, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with molybdenum cofactor deficiency (PMID: 10053004). This variant is also known as 533del4. ClinVar contains an entry for this variant (Variation ID: 6110). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000006484 SCV000026667 pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B 1999-03-01 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.