ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2283C>A (p.Tyr761Ter) (rs118203668)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422886 SCV000516532 pathogenic not provided 2017-02-13 criteria provided, single submitter clinical testing The Y761X nonsense variant in the TSC1 gene has been reported previously in association with tuberoussclerosis (Hung et al., 2006; Tsai et al., 2011; TSC1 LOVD). A different nucleotide change (c.2283 C>G)resulting in the same Y761X nonsense variant has also been reported as pathogenic (Young et al., 1998).This variant is predicted to cause loss of normal protein function either through protein truncation ornonsense-mediated mRNA decay. It was not observed in approximately 6,500 individuals of European andAfrican American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benignvariant in these populations. Additionally, other nonsense variants in nearby residues (Q765X and Q767X)have been reported in the Human Gene Mutation Database in association with tuberous sclerosis (Stenson etal., 2014). Therefore, we interpret Y761X as a pathogenic variant.
Tuberous sclerosis database (TSC1) RCV000042180 SCV000065966 not provided Tuberous sclerosis syndrome no assertion provided curation

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