ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3413G>T (p.Arg1138Leu)

dbSNP: rs143168379
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531494 SCV000644439 uncertain significance Tuberous sclerosis 2 2017-01-02 criteria provided, single submitter clinical testing 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. 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: "Probably Damaging"; 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 arginine with leucine at codon 1138 of the TSC2 protein (p.Arg1138Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine.

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