ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2353C>T (p.Gln785Ter) (rs45517226)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760361 SCV000890223 pathogenic not provided 2018-11-28 criteria provided, single submitter clinical testing The Q785X nonsense variant in the TSC2 gene has been reported previously in an individual with a clinical diagnosis of tuberous sclerosis complex (Choi et al., 2006). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q785X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, the Q785X variant is considered a pathogenic variant.
Tuberous sclerosis database (TSC2) RCV000043411 SCV000067217 not provided Tuberous sclerosis syndrome no assertion provided curation

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