ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.618del (p.Cys206fs)

dbSNP: rs2151070992
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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 RCV002007370 SCV002230772 pathogenic Tuberous sclerosis 2 2021-05-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys206Trpfs*10) 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). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TSC2-related conditions. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV002007370 SCV003806601 pathogenic Tuberous sclerosis 2 2023-01-18 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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