ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2452dup (p.Ile818fs)

dbSNP: rs2088927807
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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 RCV001041714 SCV001205344 pathogenic Tuberous sclerosis 2 2022-07-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 839858). This sequence change creates a premature translational stop signal (p.Ile818Asnfs*65) 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 (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with tuberous sclerosis complex (PMID: 27859028). For these reasons, this variant has been classified as Pathogenic.

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