ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2453A>G (p.Glu818Gly)

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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 RCV004524647 SCV005028269 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-25 criteria provided, single submitter clinical testing The p.E818G variant (also known as c.2453A>G), located in coding exon 14 of the RET gene, results from an A to G substitution at nucleotide position 2453. The glutamic acid at codon 818 is replaced by glycine, 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.
Baylor Genetics RCV004573472 SCV005054195 uncertain significance Hirschsprung disease, susceptibility to, 1 2024-02-06 criteria provided, single submitter clinical testing

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