ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.740T>C (p.Ile247Thr) (rs1043531053)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001026403 SCV001188777 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-28 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001053547 SCV001217815 uncertain significance Multiple endocrine neoplasia, type 1 2019-11-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 247 of the MEN1 protein (p.Ile247Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with neuroendocrine tumors (PMID: 20660572). 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 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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