ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.340dup (p.Ser114fs) (rs886041213)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000309108 SCV000329422 pathogenic not provided 2015-11-19 criteria provided, single submitter clinical testing The c.340dupA pathogenic variant in the MEN1 gene has been reported previously in association with Multiple Endocrine Neoplasia type I (Klein et al., 2005). The duplication causes a frameshift starting with codon Serine 114, changes this amino acid to a Lysine residue and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Ser114LysfsX3. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.340dupA variant 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.
Ambry Genetics RCV000490981 SCV000579738 pathogenic Hereditary cancer-predisposing syndrome 2016-06-06 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV001046917 SCV001210840 pathogenic Multiple endocrine neoplasia, type 1 2019-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser114Lysfs*3) 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 individual(s) with clinical features of multiple endocrine neoplasia type 1 (PMID: 15714081). ClinVar contains an entry for this variant (Variation ID: 279850). Loss-of-function variants in MEN1 are known to be pathogenic (PMID: 12112656, 17853334). For these reasons, this variant has been classified as Pathogenic.

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