ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1507G>T (p.Gly503Cys)

dbSNP: rs2136087052
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001959708 SCV002216859 uncertain significance Multiple endocrine neoplasia, type 1 2023-03-10 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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) 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. ClinVar contains an entry for this variant (Variation ID: 1431839). This variant has not been reported in the literature in individuals affected with MEN1-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 503 of the MEN1 protein (p.Gly503Cys).
Ambry Genetics RCV004641813 SCV005131128 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-14 criteria provided, single submitter clinical testing The p.G503C variant (also known as c.1507G>T), located in coding exon 9 of the MEN1 gene, results from a G to T substitution at nucleotide position 1507. The glycine at codon 503 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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