ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2407C>T (p.Gln803Ter)

dbSNP: rs45517234
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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 RCV001202863 SCV001373995 pathogenic Tuberous sclerosis 2 2024-02-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln803*) 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 clinical features of TSC2-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 49207). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000042465 SCV000066256 not provided Tuberous sclerosis syndrome no assertion provided curation

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