ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2688G>A (p.Trp896Ter)

dbSNP: rs397514913
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233779 SCV000285310 pathogenic Tuberous sclerosis 2 2019-06-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This protein change has been observed in an individual affected with tuberous sclerosis complex (PMID: 11112665). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp896*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product.
Tuberous sclerosis database (TSC2) RCV000055089 SCV000083307 not provided Tuberous sclerosis syndrome no assertion provided curation

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