ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1228C>T (p.Gln410Ter) (rs864622615)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506315 SCV000604211 pathogenic not specified 2016-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000256143 SCV000321882 pathogenic not provided 2017-11-03 criteria provided, single submitter clinical testing This variant is denoted MEN1 c.1213C>T at the cDNA level and p.Gln405Ter (Q405X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant , also published as MEN1 Q410X has been reported in at least one family with multiple endocrine neoplasia type 1(Park 2003) and is considered pathogenic.
Invitae RCV000205609 SCV000261347 pathogenic Multiple endocrine neoplasia, type 1 2018-02-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln405*) 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 families and several unrelated individuals affected with multiple endocrine neoplasia type 1 (MEN1) syndrome (PMID: 12791038, 25309785, 29036195, 16563611). ClinVar contains an entry for this variant (Variation ID: 220643). 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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