ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4989+18_4989+19insTGGTGAGTGAGGGGCCGTCA

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003112093 SCV003786342 likely benign Tuberous sclerosis 2 2024-12-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004804578 SCV005428365 uncertain significance Tuberous sclerosis syndrome 2024-03-24 criteria provided, single submitter clinical testing This variant inserts 20 nucleotides in exon 38 of the TSC2 gene. Splice site prediction tools suggest that this variant may have a significant impact on RNA splicing. To our knowledge, RNA studies have not been reported for this variant. To our knowledge, this variant has not been reported in individuals affected with TSC2-related disorders in the literature. This variant has been identified in 2/200764 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of TSC2 function is a known mechanism of disease (clinicalgenome.org). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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