ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.958G>T (p.Asp320Tyr) (rs747851909)

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
GeneDx RCV000494086 SCV000582467 pathogenic not provided 2015-08-27 criteria provided, single submitter clinical testing The D315Y missense variant in the MEN1 gene has been reported previously in association with multiple endocrine neoplasia type 1 (White et al., 2010; Ellard et al., 2005). It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. D315Y is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position conserved in mammals and in-silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (A309P, T311P, R314P, H317Y/R, P320L/R) have been reported in the Human Gene Mutation Database in association with multiple endocrine neoplasia type 1 (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, the D315Y variant is interpreted 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.