ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.409C>T (p.Arg137Trp)

dbSNP: rs1208267598
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709160 SCV000838459 uncertain significance Multiple endocrine neoplasia, type 1 2018-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000709160 SCV002196819 uncertain significance Multiple endocrine neoplasia, type 1 2025-01-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 137 of the MEN1 protein (p.Arg137Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of multiple endocrine neoplasia type 1 (PMID: 29497973, 35264596). ClinVar contains an entry for this variant (Variation ID: 584771). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt MEN1 protein function with a positive predictive value of 95%. 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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