ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1180C>T (p.Arg394Trp) (rs566593066)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463517 SCV000541192 uncertain significance Multiple endocrine neoplasia, type 1 2016-12-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 389 of the MEN1 protein (p.Arg389Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MEN1-related disease. 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, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Mendelics RCV000463517 SCV000838453 uncertain significance Multiple endocrine neoplasia, type 1 2018-07-02 criteria provided, single submitter clinical testing

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