ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.955_1065-227del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556751 SCV000628111 pathogenic Multiple endocrine neoplasia, type 1 2017-08-11 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing most of exon 7 of the MEN1 gene, including the exon 7-intron 7 boundary (c.940_1050-227del). This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MEN1-related disease. Loss-of-function variants in MEN1 are known to be pathogenic (PMID: 17853334, 12112656). For these reasons, this variant has been classified as Pathogenic.

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