ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1839+4T>C

dbSNP: rs1246472342
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554315 SCV000644289 likely benign Tuberous sclerosis 2 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003302846 SCV003988642 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-09 criteria provided, single submitter clinical testing The c.1839+4T>C intronic variant results from a T to C substitution 4 nucleotides after coding exon 16 in the TSC2 gene. This nucleotide position is not well 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.

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