ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.791T>C (p.Leu264Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001211834 SCV001383394 pathogenic Multiple endocrine neoplasia, type 1 2019-08-22 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 264 of the MEN1 protein (p.Leu264Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with multiple endocrine neoplasia type 1 syndrome in a family (PMID: 9888389). This variant is also known as c.901T>C in the literature. This variant has been reported to affect MEN1 protein function (PMID: 21819486). For these reasons, this variant has been classified as Pathogenic.

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