ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4006-15_4048del

dbSNP: rs2090477253
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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 RCV001049347 SCV001213393 likely pathogenic Tuberous sclerosis 2 2019-12-11 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This variant has not been reported in the literature in individuals with TSC2-related conditions. This variant is not present in population databases (ExAC no frequency). This variant results in the deletion of part of exon 34 (4006-15_4048del) 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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