ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.725C>T (p.Ala242Val) (rs760289964)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465273 SCV000541181 uncertain significance Multiple endocrine neoplasia, type 1 2019-01-08 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 237 of the MEN1 protein (p.Ala237Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs760289964, ExAC 0.002%). This variant has not been reported in the literature in individuals with MEN1-related disease. ClinVar contains an entry for this variant (Variation ID: 403803). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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