ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1420C>G (p.Arg474Gly)

dbSNP: rs775842917
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002023472 SCV002301277 uncertain significance Multiple endocrine neoplasia, type 2 2022-10-08 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1515812). This variant has not been reported in the literature in individuals affected with RET-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 474 of the RET protein (p.Arg474Gly).
All of Us Research Program, National Institutes of Health RCV002023472 SCV004835369 uncertain significance Multiple endocrine neoplasia, type 2 2023-11-30 criteria provided, single submitter clinical testing

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