ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.2434C>T (p.Arg812Ter)

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 RCV001214893 SCV001386600 pathogenic not provided 2019-03-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg812*) in the LIFR gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed as homozygous in an individual affected with Stuve-Wiedemann syndrome (PMID: 14740318). Loss-of-function variants in LIFR are known to be pathogenic (PMID: 14740318). For these reasons, this variant has been classified as Pathogenic.

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.