ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1317_1320del (p.Phe439fs)

dbSNP: rs1941607846
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204903 SCV001376132 pathogenic Multiple endocrine neoplasia, type 1 2020-01-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the MEN1 protein. Other variant(s) that disrupt this region (p.Lys559Glufs*38) have been determined to be pathogenic (PMID: 10090472, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has been observed in families with clinical features of multiple endocrine neoplasia type 1 (PMID: 9683585, 11836268). This variant is also known as 1424del4 in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the MEN1 gene (p.Phe439Leufs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 172 amino acids of the MEN1 protein.

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