ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2838-122G>A (rs1567489890)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691799 SCV000819591 pathogenic Tuberous sclerosis 2 2018-05-15 criteria provided, single submitter clinical testing This sequence change falls in intron 25 of the TSC2 gene. It does not directly change the encoded amino acid sequence of the TSC2 protein. This variant has been reported to be de novo in individuals affected with tuberous sclerosis complex (PMID: 25927202). This variant has been reported to de novo in individuals in the TSC2 Leiden Open-source Variation Database (PMID: 21520333). Experimental studies have shown that this intronic change results in abnormal splicing of the TSC2 primary transcript which then produces a prematurely truncated protein (PMID: 25927202). For these reasons, this variant has been classified as Pathogenic.

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