Submissions for variant NM_000548.5(TSC2):c.2356-4G>A

gnomAD frequency: 0.00001  dbSNP: rs201156748

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000491695	SCV000579605	uncertain significance	Hereditary cancer-predisposing syndrome	2021-09-15	criteria provided, single submitter	clinical testing	The c.2356-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 21 in the TSC2 gene. This nucleotide position is poorly 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.
Invitae	RCV001080449	SCV000765996	likely benign	Tuberous sclerosis 2	2023-12-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000838626	SCV000980500	likely benign	not provided	2019-11-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001080449	SCV002039648	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003932796	SCV004749335	likely benign	TSC2-related condition	2023-04-20	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).