ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.207del (p.Asp70fs) (rs1057517902)

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 RCV000412904 SCV000491019 pathogenic not provided 2016-11-22 criteria provided, single submitter clinical testing The c.207del C variant in the MEN1 gene has been reported previously in association with multiple endocrine neoplasia type I (MEN1) (for examples, see Agarwal et al., 1997; White et al., 2010; Sala et al., 2013). This deletion causes a frameshift starting with codon Aspartic Acid 70, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 49 of the new reading frame, denoted p.Asp70ThrfsX49. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider c.207delC to be 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.