ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.866C>A (p.Ala289Glu) (rs1565645563)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695678 SCV000824192 likely pathogenic Multiple endocrine neoplasia, type 1 2018-10-19 criteria provided, single submitter clinical testing This sequence change replaces alanine with glutamic acid at codon 284 of the MEN1 protein (p.Ala284Glu). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with MEN1-related tumors (PMID: 9463336, 19953642, 15635078, Invitae). Also, it has been observed to segregate with multiple endocrine neoplasia type 1 syndrome in a family (PMID: 19953642). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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