ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1495G>A (p.Ala499Thr)

dbSNP: rs761517398
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002257044 SCV002530053 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-11 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV003094199 SCV003302145 uncertain significance Multiple endocrine neoplasia, type 1 2023-09-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 499 of the MEN1 protein (p.Ala499Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with MEN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1692067). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.

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