ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.3G>A (p.Met1Ile) (rs786204242)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000168423 SCV000781717 likely pathogenic Multiple endocrine neoplasia, type 1 2016-11-01 criteria provided, single submitter clinical testing
Counsyl RCV000168423 SCV000489174 likely pathogenic Multiple endocrine neoplasia, type 1 2016-09-07 criteria provided, single submitter clinical testing
Invitae RCV000168423 SCV000219119 pathogenic Multiple endocrine neoplasia, type 1 2018-09-17 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 (ExAC no frequency). This variant has been observed in individuals affected with MEN1-related disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 188376). Variants that disrupt the initiator methionine in MEN1 have been observed in affected individuals (PMID: 28736585, 29036195, 15714081, 26515642, Invitae). This suggests that it is a clinically significant residue, and that other variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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