ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.2T>A (p.Met1Lys)

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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 RCV003058328 SCV003440546 pathogenic Multiple endocrine neoplasia, type 1 2022-01-13 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the MEN1 mRNA. The next in-frame methionine is located at codon 228. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individuals with multiple endocrine neoplasia type 1 (PMID: 28736585, 29036195; Invitae). 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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