ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.3230del (p.Pro1077fs)

dbSNP: rs1556016350
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001383584 SCV001582775 pathogenic not provided 2020-02-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro1077Leufs*13) in the KIAA2022 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KIAA2022 are known to be pathogenic (PMID: 23615299). This variant has not been reported in the literature in individuals with KIAA2022-related conditions. ClinVar contains an entry for this variant (Variation ID: 541125).

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.