ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.267_268delinsTT (p.Leu89_Gln90delinsPheTer)

dbSNP: rs2548397273
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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 RCV002885247 SCV003240101 pathogenic Tuberous sclerosis 2 2022-10-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu89_Gln90delinsPhe*) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TSC2-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database.

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