ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.683T>C (p.Leu228Pro) (rs886039415)

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
GeneDx RCV000255095 SCV000321880 pathogenic not provided 2016-02-05 criteria provided, single submitter clinical testing The L223P missense variant in the MEN1 gene has been reported previously in individuals with multiple endocrine neoplasia type 1 (Giraud et al., 1998; Crepin et al., 2003; Pieterman et al., 2012). The L223P variant was not observed in approximately 6,500 individuals of European or African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The L223P variant is a semi-conservative amino acid substition, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. Missense variants in nearby residues (W220S, W220L, G225R, S226P) have been reported in the Human Gene Mutation Database in association with MEN1-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, this variant is considered pathogenic.
Ambry Genetics RCV000491535 SCV000579636 likely pathogenic Hereditary cancer-predisposing syndrome 2017-11-08 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Moderate segregation with disease (at least 3 informative meioses) for rare diseases.;Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation

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.