ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5074dup (p.Glu1692fs)

dbSNP: rs2091087487
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001215628 SCV001387382 pathogenic Tuberous sclerosis 2 2019-06-19 criteria provided, single submitter clinical testing This variant has been observed in an individual affected with tuberous sclerosis complex (PMID: 28087349). 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.Glu1692Glyfs*14) in the TSC2 gene. It is expected to result in an absent or disrupted protein product.

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