ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1546C>T (p.Arg516Trp)

dbSNP: rs763160290
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneKor MSA RCV000708705 SCV000822014 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001321256 SCV001512078 uncertain significance Multiple endocrine neoplasia, type 1 2024-01-31 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 516 of the MEN1 protein (p.Arg516Trp). This variant is present in population databases (rs763160290, gnomAD 0.002%). This missense change has been observed in individual(s) with clinical features of MEN1-related conditions (PMID: 31159747). This variant is also known as c.1561C>T (p.Arg521Trp). ClinVar contains an entry for this variant (Variation ID: 584527). 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.
Ambry Genetics RCV000708705 SCV002705118 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-03 criteria provided, single submitter clinical testing The p.R516W variant (also known as c.1546C>T), located in coding exon 9 of the MEN1 gene, results from a C to T substitution at nucleotide position 1546. The arginine at codon 516 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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