ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.578dup (p.Ala194fs)

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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 RCV003632279 SCV004468444 pathogenic Multiple endocrine neoplasia, type 1 2023-06-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala194Serfs*2) 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 variant has not been reported in the literature in individuals affected with MEN1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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