ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3581G>A (p.Trp1194Ter)

dbSNP: rs397515168
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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 RCV003512007 SCV004296666 pathogenic Tuberous sclerosis 2 2024-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1194*) 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 tuberous sclerosis complex (PMID: 28087349). ClinVar contains an entry for this variant (Variation ID: 65230). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000055451 SCV000083672 not provided Tuberous sclerosis syndrome no assertion provided curation

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