ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1507C>T (p.Gln503Ter)

dbSNP: rs397514929
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001575872 SCV001802954 pathogenic not provided 2019-12-17 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Reported previously in a patient with tuberous sclerosis complex, however information about parental testing was not provided (Cai et al., 2017); This variant is associated with the following publications: (PMID: 21309039, 28065512, 15798777, 25525159)
Tuberous sclerosis database (TSC2) RCV000055110 SCV000083328 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000055110 SCV000083725 not provided Tuberous sclerosis syndrome no assertion provided curation

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