ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1282T>C (p.Trp428Arg) (rs1555164270)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547991 SCV000628033 uncertain significance Multiple endocrine neoplasia, type 1 2019-02-20 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 423 of the MEN1 protein (p.Trp423Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with multiple endocrine neoplasia type 1 (PMID: 12746426). ClinVar contains an entry for this variant (Variation ID: 457284). Experimental studies have shown that this missense change causes rapid degradation of MEN1 in vitro (PMID: 22090276, 22275377). 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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