ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1777G>A (p.Gly593Arg) (rs878855059)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233935 SCV000290533 uncertain significance Multiple endocrine neoplasia, type 2 2016-01-10 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 593 of the RET protein (p.Gly593Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency) and 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C25"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Counsyl RCV000662885 SCV000785796 uncertain significance Multiple endocrine neoplasia, type 2a 2017-12-08 criteria provided, single submitter clinical testing

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