ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5069-18A>G (rs45484794)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068320 SCV001233426 likely pathogenic Tuberous sclerosis 2 2019-01-14 criteria provided, single submitter clinical testing This sequence change falls in intron 39 of the TSC2 gene. It does not directly change the encoded amino acid sequence of the TSC2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with tuberous sclerosis complex (PMID: 21520333). This variant is also known as IVS38-18A>G in the literature. ClinVar contains an entry for this variant (Variation ID: 49345). Experimental studies have shown that this variant disrupts mRNA splicing (PMID:10533066). 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.
Tuberous sclerosis database (TSC2) RCV000042605 SCV000066399 not provided Tuberous sclerosis syndrome no assertion provided curation

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