ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.1344+267A>G

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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV004732511 SCV005329649 uncertain significance Abetalipoproteinaemia criteria provided, single submitter clinical testing This variant is not observed in the gnomAD population database. In silico analysis tool (SpliceAI) is predicting this variant to result in aberrant splicing of the MTTP gene. Biallelic variants in MTTP are associate with abetalipoproteinemia (MIM# 200100).

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.