ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5069-5C>T

gnomAD frequency: 0.00001  dbSNP: rs762149472
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706873 SCV000835947 likely benign Tuberous sclerosis 2 2023-10-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023491 SCV001185383 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-12 criteria provided, single submitter clinical testing The c.5069-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 39 in the TSC2 gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000706873 SCV002040867 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing

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