ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2437C>G (p.Arg813Gly)

dbSNP: rs779996040
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003108268 SCV003761589 uncertain significance not provided 2022-07-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on 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 RCV004244485 SCV005028329 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-27 criteria provided, single submitter clinical testing The p.R813G variant (also known as c.2437C>G), located in coding exon 14 of the RET gene, results from a C to G substitution at nucleotide position 2437. The arginine at codon 813 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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