ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1540G>A (p.Gly514Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002403170 SCV002705069 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-25 criteria provided, single submitter clinical testing The p.G514S variant (also known as c.1540G>A), located in coding exon 8 of the RET gene, results from a G to A substitution at nucleotide position 1540. The glycine at codon 514 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003100710 SCV002972789 uncertain significance Multiple endocrine neoplasia, type 2 2022-09-21 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 514 of the RET protein (p.Gly514Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RET-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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