ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3476G>T (p.Arg1159Leu) (rs45473098)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000477075 SCV000544317 uncertain significance Tuberous sclerosis 2 2018-01-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 1159 of the TSC2 protein (p.Arg1159Leu). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is present in population databases (rs45473098, ExAC 0.02%). This variant has not been reported in the literature in individuals with TSC2-related disease. ClinVar contains an entry for this variant (Variation ID: 50089). In an experimental study, this missense change displayed wild-type TSC2 expression and activity (PMID: 21309039). 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.
Ambry Genetics RCV000568240 SCV000675554 likely benign Hereditary cancer-predisposing syndrome 2017-06-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),In silico models in agreement (benign)
Tuberous sclerosis database (TSC2) RCV000043355 SCV000067161 not provided Tuberous sclerosis syndrome no assertion provided curation

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