ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2489G>A (p.Gly830Glu)

dbSNP: rs1159027752
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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 RCV002021983 SCV002263657 uncertain significance Multiple endocrine neoplasia, type 2 2023-08-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RET-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 830 of the RET protein (p.Gly830Glu). ClinVar contains an entry for this variant (Variation ID: 1480116). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated.
Ambry Genetics RCV003355727 SCV004056413 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-30 criteria provided, single submitter clinical testing The p.G830E variant (also known as c.2489G>A), located in coding exon 14 of the RET gene, results from a G to A substitution at nucleotide position 2489. The glycine at codon 830 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated 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 RCV002021983 SCV004825910 uncertain significance Multiple endocrine neoplasia, type 2 2023-11-30 criteria provided, single submitter clinical testing

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