ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.549G>A (p.Trp183Ter)

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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 RCV003062405 SCV003440493 pathogenic Multiple endocrine neoplasia, type 1 2024-02-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp183*) in the MEN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MEN1 are known to be pathogenic (PMID: 12112656, 17853334). 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: 9215690, 9671267, 30324798). ClinVar contains an entry for this variant (Variation ID: 2137148). For these reasons, this variant has been classified as Pathogenic.

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