ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.361G>A (p.Val121Ile) (rs863224812)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199154 SCV000255203 uncertain significance Multiple endocrine neoplasia, type 1 2018-12-28 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 121 of the MEN1 protein (p.Val121Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant has not been published in the literature and is not present in population databases. ClinVar contains an entry for this variant (Variation ID: 216817). 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. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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