ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.694C>T (p.Gln232Ter)

dbSNP: rs2080116822
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
CeGaT Center for Human Genetics Tuebingen RCV001091613 SCV001247750 likely pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing
Invitae RCV001091613 SCV003315290 pathogenic not provided 2022-02-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 871572). This premature translational stop signal has been observed in individual(s) with intellectual disability syndrome (PMID: 33144681). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln232*) in the NEXMIF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NEXMIF are known to be pathogenic (PMID: 23615299).

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.