Submissions for variant NM_000548.5(TSC2):c.2743-4C>T

gnomAD frequency: 0.00001  dbSNP: rs1258692002

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000540836	SCV000644368	likely benign	Tuberous sclerosis 2	2024-01-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001016469	SCV001177428	uncertain significance	Hereditary cancer-predisposing syndrome	2019-10-11	criteria provided, single submitter	clinical testing	The c.2743-4C>T intronic variant results from a C to T substitution 4 nucleotides upstream from coding exon 24 in the TSC2 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx	RCV001538957	SCV001756678	likely benign	not provided	2019-12-24	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000540836	SCV002039683	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001016469	SCV002533322	likely benign	Hereditary cancer-predisposing syndrome	2020-11-29	criteria provided, single submitter	curation