ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4255C>T (p.Gln1419Ter) (rs45437193)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760367 SCV000890229 pathogenic not provided 2018-07-30 criteria provided, single submitter clinical testing The Q1419X nonsense variant in the TSC2 gene has been reported previously in association with Tuberous Sclerosis Complex (TSC) (Jones et al., 1999; Rose et al., 1999; Langkau et al., 2002; Roberts et al., 2004; Cai et al., 2017). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the Q1419X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, the presence of Q1419X is consistent with the diagnosis of TSC in this individual.
Tuberous sclerosis database (TSC2) RCV000043087 SCV000066886 not provided Tuberous sclerosis syndrome no assertion provided curation

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