ClinVar Miner

Submissions for variant NM_020975.6(RET):c.803C>G (p.Ser268Trp)

dbSNP: rs764239646
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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 RCV003531581 SCV004299889 uncertain significance Multiple endocrine neoplasia, type 2 2023-09-08 criteria provided, single submitter clinical testing This variant is present in population databases (rs764239646, gnomAD 0.006%). This sequence change replaces serine, which is neutral and polar, with tryptophan, which is neutral and slightly polar, at codon 268 of the RET protein (p.Ser268Trp). This variant has not been reported in the literature in individuals affected with RET-related conditions. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive.

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