ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.629C>A (p.Thr210Lys)

dbSNP: rs756287855
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001991172 SCV002263731 uncertain significance Multiple endocrine neoplasia, type 1 2022-11-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1480061). This variant has not been reported in the literature in individuals affected with MEN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 210 of the MEN1 protein (p.Thr210Lys). 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 expected to disrupt MEN1 protein function.
Ambry Genetics RCV003170340 SCV003860260 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-17 criteria provided, single submitter clinical testing The p.T210K variant (also known as c.629C>A), located in coding exon 2 of the MEN1 gene, results from a C to A substitution at nucleotide position 629. The threonine at codon 210 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV001991172 SCV005427785 uncertain significance Multiple endocrine neoplasia, type 1 2024-08-23 criteria provided, single submitter clinical testing This missense variant replaces threonine with lysine at codon 210 of the MEN1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MEN1-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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