ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.843C>A (p.Tyr281Ter) (rs1060503789)

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
Ambry Genetics RCV000491793 SCV000579671 pathogenic Hereditary cancer-predisposing syndrome 2017-10-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense),Rarity in general population databases (dbsnp, esp, 1000 genomes),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
GeneDx RCV000484977 SCV000565128 pathogenic not provided 2018-02-23 criteria provided, single submitter clinical testing This variant is denoted MEN1 c.828C>A at the cDNA level and p.Tyr276Ter (Y276X) at the protein level. The substitution creates a nonsense variant, which changes a Tyrosine to a premature stop codon (TAC>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in individuals with multiple endocrine neoplasia type 1 (Kouvaraki 2002, Schaaf 2007, Ye 2017) and is considered pathogenic.
Invitae RCV000823755 SCV000964625 pathogenic Multiple endocrine neoplasia, type 1 2018-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr276*) in the MEN1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in families affected with multiple endocrine neoplasia type 1 (PMID: 12049533, 17853334). This variant is also known as c.938C>A in the literature. ClinVar contains an entry for this variant (Variation ID: 418292). Loss-of-function variants in MEN1 are known to be pathogenic (PMID: 12112656, 17853334). 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.