ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.759C>A (p.Cys253Ter)

dbSNP: rs45517125
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003311672 SCV004010419 pathogenic not provided 2023-06-01 criteria provided, single submitter clinical testing TSC2: PVS1, PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV005089397 SCV005839116 pathogenic Tuberous sclerosis 2 2024-02-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys253*) 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: 11112665). ClinVar contains an entry for this variant (Variation ID: 49914). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000043181 SCV000066981 not provided Tuberous sclerosis syndrome no assertion provided curation

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