ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1136dup (p.Ala380fs) (rs1592640181)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002347 SCV001160251 pathogenic Multiple endocrine neoplasia, type 1 2019-01-25 criteria provided, single submitter clinical testing The MEN1 c.1136dupC; p.Ala380fs variant, to our knowledge, is not reported in the medical literature or gene-specific databases. The variant is also absent from the general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by duplicating a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Additionally, other frameshift variants after this one are described as pathogenic in the ClinVar database (see link below). Considering available information, this variant is classified as pathogenic. References: Link to MEN1 in ClinVar database:
Invitae RCV001002347 SCV001222644 pathogenic Multiple endocrine neoplasia, type 1 2019-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala380Serfs*29) 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 not been reported in the literature in individuals with MEN1-related conditions. 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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