ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2640-1G>A (rs397515203)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000518987 SCV000618134 pathogenic not provided 2016-06-13 criteria provided, single submitter clinical testing The c.2640-1 G>A splice site variant in the TSC2 gene has been previously reported as a pathogenic variant in the TSC2 LOVD database. 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 destroys the canonical splice acceptor site in intron 23, and is expected to cause abnormal gene splicing. Therefore, the presence of the c.2640-1 G>A pathogenic variant is consistent with a diagnosis of tuberous sclerosis
Tuberous sclerosis database (TSC2) RCV000055498 SCV000083720 not provided Tuberous sclerosis syndrome no assertion provided curation

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