ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1556C>G (p.Pro519Arg) (rs753022747)

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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 RCV000561798 SCV000673661 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
Invitae RCV000233918 SCV000291286 uncertain significance Multiple endocrine neoplasia, type 1 2018-08-31 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 514 of the MEN1 protein (p.Pro514Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs753022747, ExAC 0.002%) but has not been reported in the literature in individuals with a MEN1-related disease. ClinVar contains an entry for this variant (Variation ID: 241809). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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