ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.670A>G (p.Ile224Val) (rs151282774)

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 RCV000756305 SCV000884074 uncertain significance not provided 2017-12-31 criteria provided, single submitter clinical testing The LIFR c.670A>G; p.Ile224Val variant (rs151282774), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with an African population frequency of 0.3% (identified on 65 out of 24,020 chromosomes). The isoleucine in position 224 is moderately conserved, considering 12 species (Alamut software v.2.10.0) and valine is observed in this position in the dog and bushbaby genomes, indicating that this change may be evolutionarily tolerated. Computational algorithms do not agree in their assessment of an impact of this variant on the protein (SIFT: tolerated, PolyPhe-2: benign; MutationTaster: disease causing). Based on all available information, the clinical significance of the p.Ile224Val variant cannot be determined with certainty.
Invitae RCV000756305 SCV001124964 likely benign not provided 2020-09-24 criteria provided, single submitter 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.