ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4470_4471del (p.Lys1491fs)

dbSNP: rs2151537568
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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 RCV002000030 SCV002228483 pathogenic Tuberous sclerosis 2 2021-12-03 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys1491Serfs*32) 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 premature translational stop signal has been observed in individual(s) with clinical features of tuberous sclerosis complex (PMID: 21056333, 32383331). For these reasons, this variant has been classified as Pathogenic.

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