ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.421C>T (p.Gln141Ter) (rs886039553)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255977 SCV000322371 pathogenic not provided 2016-06-10 criteria provided, single submitter clinical testing The Q141X variant in the MEN1 gene has been published previously in association with multiple endocrine neoplasia type 1 in a patient with family history including father and sister with neuroendocrine tumors (Dasouki et al., 2008). This nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It 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.
Invitae RCV000632106 SCV000753210 pathogenic Multiple endocrine neoplasia, type 1 2017-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln141*) 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 reported in a family affected with multiple endocrine neoplasia 1 (PMID: 20960638). ClinVar contains an entry for this variant (Variation ID: 265450). 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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