ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2742+6C>G

dbSNP: rs377568673
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720211 SCV000525239 likely benign not provided 2019-07-18 criteria provided, single submitter clinical testing
Invitae RCV001223399 SCV001395548 uncertain significance Tuberous sclerosis 2 2023-09-10 criteria provided, single submitter clinical testing This sequence change falls in intron 24 of the TSC2 gene. It does not directly change the encoded amino acid sequence of the TSC2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.003%). 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). RNA analysis performed to evaluate the impact of this variant on mRNA splicing indicates it does not significantly alter splicing (Invitae). ClinVar contains an entry for this variant (Variation ID: 384425). This variant has not been reported in the literature in individuals affected with TSC2-related conditions.
Genome-Nilou Lab RCV001223399 SCV002039682 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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