ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) (rs142213474)

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
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171958 SCV000050952 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000171958 SCV000235958 uncertain significance not provided 2018-07-12 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the JUP gene. The I442F variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 10/246232 (0.004%) alleles in individuals from multiple ethnic backgrounds in large population cohorts (Lek et al., 2016). The I442F variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Nevertheless, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Ambry Genetics RCV000618640 SCV000736428 uncertain significance Cardiovascular phenotype 2017-06-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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.