ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4106_4110del (p.Arg1369fs)

dbSNP: rs1567521369
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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 RCV000687134 SCV000814686 pathogenic Tuberous sclerosis 2 2020-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1369Leufs*43) 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 not been reported in the literature in individuals with TSC2-related disease. This variant is not present in population databases (ExAC no frequency).

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