ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3952G>A (p.Glu1318Lys)

dbSNP: rs1064793797
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528798 SCV000644490 uncertain significance Tuberous sclerosis 2 2019-03-13 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TSC2-related disease. This sequence change replaces glutamic acid with lysine at codon 1318 of the TSC2 protein (p.Glu1318Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. 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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