ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.244T>C (p.Trp82Arg)

dbSNP: rs878854083
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229782 SCV000285294 uncertain significance Tuberous sclerosis 2 2017-12-12 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 82 of the TSC2 protein (p.Trp82Arg). The tryptophan residue is moderately conserved and there is a moderate physicochemical difference between tryptophan and arginine. In summary, the available evidence is currently insufficient to determine the role of this variant 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TSC2-related disease. ClinVar contains an entry for this variant (Variation ID: 237991). This variant is not present in population databases (ExAC no frequency).

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