ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2272C>T (p.Gln758Ter) (rs397514783)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428655 SCV000518090 pathogenic not provided 2017-01-06 criteria provided, single submitter clinical testing The Q758X nonsense variant in the TSC1 gene has been reported previously in a patient with a clinical diagnosis of TSC (external variant database). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, the presence of Q758X is consistent with a diagnosis of TSC.
Invitae RCV000705433 SCV000834430 pathogenic Tuberous sclerosis 1 2018-05-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln758*) 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 variant has been observed in individuals affected with tuberous sclerosis complex (PMID: 28087349). ClinVar contains an entry for this variant (Variation ID: 64712). Loss-of-function variants in TSC1 are known to be pathogenic (PMID: 10227394, 17304050). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC1) RCV000054888 SCV000083103 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC1) RCV000054888 SCV000083173 not provided Tuberous sclerosis syndrome no assertion provided curation

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