ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.638_1065-143del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822934 SCV000963760 pathogenic Multiple endocrine neoplasia, type 1 2018-10-15 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing exons 4-7 and part of exon 3 (c.623_1050-143del) of the MEN1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with MEN1-related disease. This variant disrupts the p.Ala284 amino acid residue in MEN1. Other variant(s) that disrupt this residue have been observed in affected individuals (PMID: 9463336, 19953642, 15635078), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. 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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