ClinVar Miner

Submissions for variant NM_020975.6(RET):c.139G>A (p.Gly47Ser) (rs529018971)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662387 SCV000784791 uncertain significance Multiple endocrine neoplasia, type 2a 2016-12-13 criteria provided, single submitter clinical testing
Invitae RCV000230397 SCV000290529 uncertain significance Multiple endocrine neoplasia, type 2 2016-02-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 47 of the RET protein (p.Gly47Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs529018971, ExAC 0.02%) but has not been reported in the literature in individuals with a RET-related disease. 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 rare 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. Therefore, it has been classified as a Variant of Uncertain Significance.

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