ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.125G>C (p.Gly42Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802906 SCV000942755 uncertain significance Multiple endocrine neoplasia, type 1 2018-07-07 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 42 of the MEN1 protein (p.Gly42Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with symptoms consistent with multiple endocrine neoplasia type 1 syndrome (PMID: 11303512). 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"). The observation of one or more missense substitutions at this codon (p.Gly42Val and p.Gly24Asp) in affected individuals suggests that this may be a clinically significant residue (PMID: 28203045, 29066490, 9463336). 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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