ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.496C>T (p.Gln166Ter) (rs45517111)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000351808 SCV000329782 pathogenic not provided 2016-09-27 criteria provided, single submitter clinical testing The Q166X nonsense variant in the TSC2 gene has been reported previously in association with tuberous sclerosis complex (Niida et al., 1999; TSC2 LOVD). 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. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Tuberous sclerosis database (TSC2) RCV000043085 SCV000066884 not provided Tuberous sclerosis syndrome no assertion provided curation

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