ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.406C>G (p.Pro136Ala) (rs761024368)

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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002011 SCV001159827 uncertain significance Stüve-Wiedemann syndrome 2018-07-19 criteria provided, single submitter clinical testing The LIFR c.406C>G; p.Pro136Ala variant (rs761024368), to our knowledge, is not described in the medical literature or in gene-specific databases. It is observed in the general population at a low overall frequency of 0.001% (3/245838 alleles) in the Genome Aggregation Database. The proline at codon 136 is highly conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is deleterious. However, due to the lack of clinical and functional data regarding this variant, its clinical significance cannot be determined with certainty.
Natera, Inc. RCV001002011 SCV001462558 uncertain significance Stüve-Wiedemann syndrome 2020-09-16 no assertion criteria provided clinical testing

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.