ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.493G>C (p.Ala165Pro) (rs1565648656)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702232 SCV000831078 pathogenic Multiple endocrine neoplasia, type 1 2019-12-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 160 of the MEN1 protein (p.Ala160Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with multiple endocrine neoplasia type 1 (MEN1) (PMID: 9215689, 9463336, 12112656, 17623761), and has been observed to segregate with disease in one of these families (PMID: 9463336). ClinVar contains an entry for this variant (Variation ID: 579050). Experimental studies have shown that this missense change causes reduced MEN1 stability and abolishes its interaction with RPA2 and JunD (PMID: 9989505, 12509449, 21819486, 22090276). For these reasons, this variant has been classified as Pathogenic.

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