ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3904G>T (p.Glu1302Ter)

dbSNP: rs886039680
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255548 SCV000322622 pathogenic not provided 2016-06-24 criteria provided, single submitter clinical testing The E1302X nonsense pathogenic 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 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. clerosis in this individual.

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