ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3395C>A (p.Ser1132Ter) (rs137854074)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414024 SCV000492134 pathogenic not provided 2016-11-21 criteria provided, single submitter clinical testing The S1132X nonsense variant in the TSC2 gene has been reported previously in association with tuberous sclerosis complex (TSC2 LOVD). The S1132X variant was not observed in approximately 6,400 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. Therefore, the presence of S1132X is consistent with a diagnosis of tuberous sclerosis complex
Tuberous sclerosis database (TSC2) RCV000043094 SCV000066893 not provided Tuberous sclerosis syndrome no assertion provided curation

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