ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter) (rs45517297)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481829 SCV000568293 pathogenic not provided 2017-02-03 criteria provided, single submitter clinical testing The Q1178X nonsense variant in the TSC2 gene has been reported previously in association with tuberous sclerosis (Niida et al., 1999; TSC2 LOVD). The Q1178X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, the presence of Q1178X is consistent with the diagnosis of TSC in this individual.
Invitae RCV000694582 SCV000823033 pathogenic Tuberous sclerosis 2 2018-04-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1178*) 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 to be de novo in individuals affected with tuberous sclerosis complex (PMID: 10533067). ClinVar contains an entry for this variant (Variation ID: 49263). 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) RCV000042522 SCV000066313 not provided Tuberous sclerosis syndrome no assertion provided curation

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