ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1346del (p.Gly449fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239413 SCV001412288 pathogenic Multiple endocrine neoplasia, type 1 2019-10-10 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MEN1 gene (p.Gly449Aspfs*9). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 162 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 multiple endocrine neoplasia type 1 (PMID: 21652691). This variant results in an extension of the MEN1 protein. Other variant(s) that result in a similarly extended protein product (p.Thr580Argfs*8) have been determined to be pathogenic (Invitae). This suggests that these extensions are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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