ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3099C>A (p.Tyr1033Ter) (rs45464800)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760362 SCV000890224 pathogenic not provided 2018-08-30 criteria provided, single submitter clinical testing The Y1033X nonsense variant in the TSC2 gene has been reported previously in association with tuberous sclerosis complex (Dabora et al., 2001; TSC2 LOVD). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthemore, the Y1033X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, the Y1033X variant is considered a pathogenic variant.
Invitae RCV000806140 SCV000946122 pathogenic Tuberous sclerosis 2 2019-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1033*) 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 in the literature in an individual affected with tuberous sclerosis (PMID: 11112665). ClinVar contains an entry for this variant (Variation ID: 49734). Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000042999 SCV000066797 not provided Tuberous sclerosis syndrome no assertion provided curation

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