ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2097+5G>C

gnomAD frequency: 0.00001  dbSNP: rs977777731
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644073 SCV000765763 likely benign Tuberous sclerosis 2 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014417 SCV001175119 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-07 criteria provided, single submitter clinical testing The c.2097+5G>C intronic variant results from a G to C substitution 5 nucleotides after coding exon 18 in the TSC2 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000644073 SCV002040679 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV003327437 SCV004034640 uncertain significance not provided 2023-03-06 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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