ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5150T>G (p.Leu1717Arg)

dbSNP: rs45517398
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689052 SCV000816689 uncertain significance Tuberous sclerosis 2 2018-02-16 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 1717 of the TSC2 protein (p.Leu1717Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). 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"). A different missense substitution at this codon (p.Leu1717Pro) has been reported in individuals affected with tuberous sclerosis (PMID: 16981987, 15798777, 21520333). 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.

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