ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.280_284dup (p.Gln96fs)

dbSNP: rs1555166494
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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 RCV000471670 SCV000541199 pathogenic Multiple endocrine neoplasia, type 1 2016-08-24 criteria provided, single submitter clinical testing This sequence change inserts 5 nucleotides in exon 2 of the MEN1 mRNA (c.280_284dupACCGC), causing a frameshift at codon 96. This creates a premature translational stop signal (p.Gln96Profs*25) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in MEN1 are known to be pathogenic (PMID: 17853334, 12112656). For these reasons, this variant has been classified as Pathogenic.

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