ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1195G>T (p.Glu399Ter) (rs773920155)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000265342 SCV000330227 pathogenic not provided 2016-02-05 criteria provided, single submitter clinical testing The E399X nonsense variant in the TSC2 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
Warsaw Genomics RCV000609232 SCV000678419 pathogenic Tuberous sclerosis 2 2018-04-02 criteria provided, single submitter clinical testing de novo mutation identified in TSC patient

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