ClinVar Miner

Submissions for variant NM_003839.4(TNFRSF11A):c.1340C>T (p.Thr447Ile)

gnomAD frequency: 0.00003  dbSNP: rs776173779
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
Eurofins Ntd Llc (ga) RCV000395836 SCV000336918 uncertain significance not provided 2015-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000395836 SCV001074470 benign not provided 2023-06-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002518921 SCV003706807 uncertain significance Inborn genetic diseases 2022-05-06 criteria provided, single submitter clinical testing The c.1340C>T (p.T447I) alteration is located in exon 9 (coding exon 9) of the TNFRSF11A gene. This alteration results from a C to T substitution at nucleotide position 1340, causing the threonine (T) at amino acid position 447 to be replaced by an isoleucine (I). 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.