ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.1033G>A (p.Val345Met)

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 RCV001046044 SCV001209929 uncertain significance NIK deficiency 2019-05-08 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 345 of the MAP3K14 protein (p.Val345Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with combined immunodeficiency and disseminated Bacillus Calmette-Gu rin-osis (BCG-osis) (PMID: 29230214). Experimental studies have shown that this missense change disrupts protein function (PMID: 29230214). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.