ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.211_212del (p.Pro71fs) (rs386134251)

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
Integrated Genetics/Laboratory Corporation of America RCV000030199 SCV000052866 pathogenic Multiple endocrine neoplasia, type 1 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
GeneDx RCV000182433 SCV000234778 pathogenic not provided 2018-05-22 criteria provided, single submitter clinical testing The c.211_212delCC variant in the MEN1 gene has been reported in association with multiple endocrine neoplasia type 1 (Cote et al., 1998; Kouvaraki et al., 2002). This deletion causes a frameshift starting with codon Proline 71, changes this amino acid to an Alanine residue and creates a premature Stop codon at position 45 of the new reading frame, denoted p.Pro71AlafsX45. 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.211_212delCC to be pathogenic.
Invitae RCV000030199 SCV000253968 pathogenic Multiple endocrine neoplasia, type 1 2018-07-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro71Alafs*45) in the MEN1 gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in individuals affected with multiple endocrine neoplasia type 1 (PMID:  12049533, 10598193). This variant is also known as c.210_211delCC or c.320del2 in the literature. ClinVar contains an entry for this variant (Variation ID: 36526). 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.