ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2411_2412delinsAA (p.Cys804Ter)

dbSNP: rs2151349354
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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 RCV001905944 SCV002152406 pathogenic Tuberous sclerosis 2 2020-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys804*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This variant has not been reported in the literature in individuals with TSC2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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