ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4004G>C (p.Arg1335Thr)

dbSNP: rs1403658994
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542179 SCV000644494 uncertain significance Tuberous sclerosis 2 2017-06-12 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with threonine at codon 1335 of the TSC2 protein (p.Arg1335Thr). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and threonine. This variant has not been reported in the literature in individuals with a TSC2-related disease. In summary, this variant has uncertain impact on TSC2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").

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