ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.482-1G>A

dbSNP: rs137854306
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521778 SCV000618184 pathogenic not provided 2016-08-10 criteria provided, single submitter clinical testing The c.482-1 G>A splice site variant in the TSC2 gene destroys the canonical splice acceptor site for intron 5. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. 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. Although this pathogenic variant has not been previously reported to our knowledge, its presence is consistent with a diagnosis of tuberous sclerosis

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