ClinVar Miner

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

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Total submissions: 1
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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: http://www.ncbi.nlm.nih.gov/clinvar/?term=MEN1%5Bgene%5D

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