ClinVar Miner

Submissions for variant NM_020975.6(RET):c.838A>G (p.Ser280Gly)

dbSNP: rs749244375
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001970939 SCV002266297 uncertain significance Multiple endocrine neoplasia, type 2 2022-11-28 criteria provided, single submitter clinical testing 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 serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 280 of the RET protein (p.Ser280Gly). ClinVar contains an entry for this variant (Variation ID: 1473932). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.

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