ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3442C>T (p.Gln1148Ter) (rs45477491)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478926 SCV000568292 pathogenic not provided 2018-02-05 criteria provided, single submitter clinical testing The Q1148X nonsense variant in the TSC2 gene has been reported previously in association with tuberous sclerosis (Jones et al., 1999; TSC2 LOVD). The Q1148X 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 Q1148X is consistent with the diagnosis of TSC in this individual
Invitae RCV000644112 SCV000765802 pathogenic Tuberous sclerosis 2 2017-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1148*) 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 individuals affected with tuberous sclerosis complex (PMID: 10205261, 11208653, 20633017). ClinVar contains an entry for this variant (Variation ID: 50087). 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) RCV000043353 SCV000067159 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC2) RCV000055289 SCV000083509 not provided Lymphangiomyomatosis; Tuberous sclerosis syndrome no assertion provided curation

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