ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1348A>G (p.Ser450Gly)

dbSNP: rs1837916996
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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 RCV001343600 SCV001537597 uncertain significance Multiple endocrine neoplasia, type 2 2015-06-25 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 450 of the RET protein (p.Ser450Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant has not been published in the literature and is not present in population databases. 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, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However, the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.

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