ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.2477_2480del (p.Leu826fs)

dbSNP: rs1446025324
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001215390 SCV001387130 pathogenic Familial hemophagocytic lymphohistiocytosis 3 2023-12-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu826Glnfs*20) in the UNC13D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in UNC13D are known to be pathogenic (PMID: 14622600). This variant is present in population databases (no rsID available, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with familial hemophagocytic lymphohistiocytosis (PMID: 19704116, 21248318). ClinVar contains an entry for this variant (Variation ID: 944890). For these reasons, this variant has been classified as Pathogenic.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529007 SCV001741719 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529007 SCV001968315 pathogenic not provided no assertion criteria provided 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.