ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1034T>G (p.Leu345Arg)

dbSNP: rs45451295
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753454 SCV001985436 uncertain significance not provided 2019-05-23 criteria provided, single submitter clinical testing Reported previously in an individual with a clinical diagnosis of TSC who also harbored a missense variant in the TSC1 gene. Information about parental testing was not provided (Yamamoto et al., 2002); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 14756965, 12015165)
Tuberous sclerosis database (TSC2) RCV000042393 SCV000066183 not provided Tuberous sclerosis syndrome no assertion provided curation

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