ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter) (rs397515087)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190073 SCV000243748 pathogenic not provided 2014-10-03 criteria provided, single submitter clinical testing p.Ser1079Ter (TCG>TAG): c.3236 C>A in exon 28 of the TSC2 gene (NM_000548.3) The S1079X nonsense mutation in the TSC2 gene has been reported previously in association with tuberous sclerosis (Sancak et al., 2005; TSC2 LOVD). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in TUBSC-EPIV2 panel(s).
Tuberous sclerosis database (TSC2) RCV000055329 SCV000083549 not provided Tuberous sclerosis syndrome no assertion provided curation

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