ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.246G>A (p.Trp82Ter)

dbSNP: rs1567394860
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704652 SCV000833608 pathogenic Tuberous sclerosis 2 2019-06-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp82*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. 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 has been reported in an individual affected with tuberous sclerosis (PMID: 25900779). This variant is not present in population databases (ExAC no frequency).

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