ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.26C>G (p.Ser9Ter)

dbSNP: rs397515228
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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 RCV001248431 SCV001421918 pathogenic Tuberous sclerosis 2 2019-10-09 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 variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser9*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 65313).
Tuberous sclerosis database (TSC2) RCV000055535 SCV000083758 not provided Tuberous sclerosis syndrome no assertion provided curation

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