ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.416del (p.His139fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002828881 SCV003213281 pathogenic Multiple endocrine neoplasia, type 1 2023-02-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MEN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His139Profs*46) 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).
Myriad Genetics, Inc. RCV002828881 SCV004930962 pathogenic Multiple endocrine neoplasia, type 1 2024-03-05 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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