ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.215C>A (p.Pro72His) (rs878856863)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695116 SCV000823596 uncertain significance Multiple endocrine neoplasia, type 1 2019-03-08 criteria provided, single submitter clinical testing This sequence change replaces proline with histidine at codon 72 of the MEN1 protein (p.Pro72His). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and histidine. This variant is not present in population databases (ExAC no frequency). This variant and another MEN1 pathogenic variant have been reported in a family affected with multiple endocrine neoplasia type 1. However, this variant did not co-segregate with disease (PMID: 23334809), suggesting it is unlikely the primary cause of disease in that family. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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