ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.659G>A (p.Trp220Ter)

dbSNP: rs1565647197
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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 RCV000696600 SCV000825165 pathogenic Multiple endocrine neoplasia, type 1 2024-08-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp220*) 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: 9709921). ClinVar contains an entry for this variant (Variation ID: 574621). For these reasons, this variant has been classified as Pathogenic.

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