ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1654A>G (p.Thr552Ala)

dbSNP: rs121913035
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001928013 SCV002180702 uncertain significance Multiple endocrine neoplasia, type 1 2020-11-05 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with MEN1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with alanine at codon 552 of the MEN1 protein (p.Thr552Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine.

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