ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1963C>T (p.Gln655Ter) (rs118203606)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189852 SCV000243505 pathogenic not provided 2014-12-16 criteria provided, single submitter clinical testing p.Gln655Ter (CAG>TAG): c.1963 C>T in exon 15 of the TSC1 gene (NM_000368.4). The Q655X nonsense mutation in the TSC1 gene has been reported previously in multiple unrelated individuals with a clinical diagnosis of tuberous sclerosis (Niida et al., 1999; Yamashita et al., 2000; Sancak et al., 2005). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The presence of Q655X is consistent with a diagnosis of tuberous sclerosis. The variant is found in TUBSC-EPIV2-1 panel(s).
Tuberous sclerosis database (TSC1) RCV000042110 SCV000065895 not provided Tuberous sclerosis syndrome no assertion provided curation

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