ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2401G>T (p.Glu801Ter) (rs118203687)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481095 SCV000568367 pathogenic not provided 2017-03-16 criteria provided, single submitter clinical testing The E801X nonsense variant in the TSC1 gene has been reported previously in a patient with a clinical diagnosis of TSC (Au et al., 2007). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the E801X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).
Tuberous sclerosis database (TSC1) RCV000042200 SCV000065986 not provided Tuberous sclerosis syndrome no assertion provided curation

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