ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter) (rs45517348)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553662 SCV000644541 pathogenic Tuberous sclerosis 2 2017-07-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1503*) in the TSC2 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 reported as a de novo variant in individuals with tuberous sclerosis in the literature (PMID: 10533067) and in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 49301). Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000627231 SCV000748220 pathogenic not provided 2018-05-02 criteria provided, single submitter clinical testing The Q1503X nonsense variant in the TSC2 gene has been reported previously as a de novo variant inassociation with TSC (Niida et al., 1999; Yu et al., 2017). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q1503X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, the presence of Q1503X is consistent with the diagnosis of TSC in this individual.
Tuberous sclerosis database (TSC2) RCV000042560 SCV000066354 not provided Tuberous sclerosis syndrome no assertion provided curation

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