ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2965A>G (p.Lys989Glu)

dbSNP: rs1554820052
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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 RCV000550763 SCV000658464 uncertain significance Multiple endocrine neoplasia, type 2 2017-05-11 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 989 of the RET protein (p.Lys989Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. 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 C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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