ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2420C>G (p.Ala807Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003154603 SCV003843135 uncertain significance Multiple endocrine neoplasia type 2A 2022-10-26 criteria provided, single submitter clinical testing The RET c.2420C>G (p.Ala807Gly) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a deleterious effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in the literature in individuals with multiple endocrine neoplasia type 2. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Ambry Genetics RCV003368065 SCV004056424 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-26 criteria provided, single submitter clinical testing The p.A807G variant (also known as c.2420C>G), located in coding exon 14 of the RET gene, results from a C to G substitution at nucleotide position 2420. The alanine at codon 807 is replaced by glycine, an amino acid with similar 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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