ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1532_1541del (p.Val511fs)

dbSNP: rs1941529928
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001233728 SCV001406336 pathogenic Multiple endocrine neoplasia, type 1 2019-07-03 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MEN1 gene (p.Val511Alafs*45). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 100 amino acids of the MEN1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with clinical features of multiple endocrine neoplasia type 1 (Invitae). This variant disrupts the C-terminus of the MEN1 protein. Other variant(s) that disrupt this region (p.Gln554*) have been determined to be pathogenic (PMID: 11578300, 17853334, 17158764, 15331604, 16449969). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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