ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.2491G>A (p.Glu831Lys)

gnomAD frequency: 0.00003  dbSNP: rs774039644
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001234463 SCV001407112 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2021-08-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003263868 SCV003974150 uncertain significance Inborn genetic diseases 2023-06-07 criteria provided, single submitter clinical testing The c.2491G>A (p.E831K) alteration is located in exon 26 (coding exon 26) of the UNC13D gene. This alteration results from a G to A substitution at nucleotide position 2491, causing the glutamic acid (E) at amino acid position 831 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.