ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.749T>A (p.Leu250Ter) (rs118203447)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000005404 SCV001212836 pathogenic Tuberous sclerosis 1 2019-02-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu250*) in the TSC1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This nonsense change has been observed in individuals affected with tuberous sclerosis complex (PMID: 9242607, 18772611). This variant is also known as 971T>A in the literature. ClinVar contains an entry for this variant (Variation ID: 5098). Loss-of-function variants in TSC1 are known to be pathogenic (PMID: 10227394, 17304050). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005404 SCV000025586 pathogenic Tuberous sclerosis 1 1997-08-08 no assertion criteria provided literature only
Tuberous sclerosis database (TSC1) RCV000042356 SCV000066145 not provided Tuberous sclerosis syndrome no assertion provided curation

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