ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.667C>T (p.Arg223Trp) (rs794728620)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410087 SCV000488940 uncertain significance Multiple endocrine neoplasia, type 1 2016-07-22 criteria provided, single submitter clinical testing
Invitae RCV000410087 SCV000628092 uncertain significance Multiple endocrine neoplasia, type 1 2019-06-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 218 of the MEN1 protein (p.Arg218Trp). 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). This variant has been reported in two related individuals in the Universal Mutation Database, but disease phenotype information was not provided for these individuals (PMID: 10612827). ClinVar contains an entry for this variant (Variation ID: 200976). 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 rare missense change that is absent from population and has uncertain impact on protein function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GenomeConnect, ClinGen RCV000410087 SCV001338863 not provided Multiple endocrine neoplasia, type 1 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 03-10-2018 by Lab or GTR ID Pathology Queensland. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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