ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4570-21_4570-11dup

dbSNP: rs137854040
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719783 SCV000730311 likely benign not provided 2019-02-25 criteria provided, single submitter clinical testing
Invitae RCV003764716 SCV004679761 uncertain significance Tuberous sclerosis 2 2024-01-15 criteria provided, single submitter clinical testing This sequence change falls in intron 35 of the TSC2 gene. It does not directly change the encoded amino acid sequence of the TSC2 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs770481057, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 49531). Studies have shown that this variant results in activation of a cryptic spice site and introduces a premature termination codon (Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Tuberous sclerosis database (TSC2) RCV000042791 SCV000066587 not provided Tuberous sclerosis syndrome no assertion provided curation

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