ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1402G>A (p.Glu468Lys)

dbSNP: rs1471493357
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039197 SCV001202714 uncertain significance Multiple endocrine neoplasia, type 1 2022-01-27 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MEN1 protein function. This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 837786). This variant has not been reported in the literature in individuals affected with MEN1-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 468 of the MEN1 protein (p.Glu468Lys).

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