ClinVar Miner

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

dbSNP: rs1941603016
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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 RCV001239413 SCV001412288 pathogenic Multiple endocrine neoplasia, type 1 2023-11-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly449Aspfs*9) in the MEN1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 162 amino acid(s) of the MEN1 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with multiple endocrine neoplasia type 1 (PMID: 21652691). ClinVar contains an entry for this variant (Variation ID: 965054). 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 disease-causing. For these reasons, this variant has been classified as Pathogenic.

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