ClinVar Miner

Submissions for variant NM_003954.5(MAP3K14):c.916T>C (p.Cys306Arg)

gnomAD frequency: 0.00001  dbSNP: rs766805198
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000655443 SCV000777373 uncertain significance NIK deficiency 2022-08-06 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 544323). This variant has not been reported in the literature in individuals affected with MAP3K14-related conditions. This variant is present in population databases (rs766805198, gnomAD 0.003%). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 306 of the MAP3K14 protein (p.Cys306Arg).

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.