ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.105dup (p.Leu36fs)

dbSNP: rs1555166711
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 RCV000486614 SCV000573069 pathogenic not provided 2017-07-20 criteria provided, single submitter clinical testing The c.105dupG variant in the MEN1 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This duplication causes a frameshift starting with codon Leucine 36, changes this amino acid to an Alanine residue and creates a premature Stop codon at position 81 of the new reading frame, denoted p.Leu36AlafsX81. 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.105dupG to be pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001851251 SCV002145404 pathogenic Multiple endocrine neoplasia, type 1 2020-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu36Alafs*81) in the MEN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MEN1 are known to be pathogenic (PMID: 12112656, 17853334). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MEN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 423376). For these reasons, this variant has been classified 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.