ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1154G>A (p.Gly385Glu)

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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 RCV002967552 SCV003287176 uncertain significance Multiple endocrine neoplasia, type 2 2025-01-12 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 385 of the RET protein (p.Gly385Glu). 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. ClinVar contains an entry for this variant (Variation ID: 2073024). 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. 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.
GeneDx RCV004779388 SCV005392185 uncertain significance not provided 2024-04-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 14633923)
Ambry Genetics RCV004946112 SCV005490926 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-19 criteria provided, single submitter clinical testing The p.G385E variant (also known as c.1154G>A), located in coding exon 6 of the RET gene, results from a G to A substitution at nucleotide position 1154. The glycine at codon 385 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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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