ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3685C>T (p.Gln1229Ter) (rs45517306)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760363 SCV000890225 pathogenic not provided 2018-12-21 criteria provided, single submitter clinical testing The Q1229X nonsense variant in the TSC2 gene has been reported previously in association with tuberous sclerosis complex (Dabora et al., 2001; Tyburczy et al., 2015; TSC2 LOVD). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, tthe Q1229X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, the Q1229X variant is considered a pathogenic variant.
Tuberous sclerosis database (TSC2) RCV000042529 SCV000066320 not provided Tuberous sclerosis syndrome no assertion provided curation

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