ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1839+2T>C

dbSNP: rs1555505211
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000524605 SCV000644287 pathogenic Tuberous sclerosis 2 2017-01-26 criteria provided, single submitter clinical testing Loss-of-function variants in TSC2 are known to be pathogenic. This particular variant has been reported in individuals affected with tuberous sclerosis complex (TSC), in the literature (PMID: 25782670) and in the Leiden Open-source Variation Database (PMID: 21520333). For these reasons, this variant has been classified as Pathogenic. This sequence change affects a donor splice site in intron 17 of the TSC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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