Submissions for variant NM_000548.5(TSC2):c.1398G>A (p.Leu466=)

gnomAD frequency: 0.00001  dbSNP: rs200702857

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001085695	SCV000285243	benign	Tuberous sclerosis 2	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000230792	SCV000729661	likely benign	not provided	2020-11-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000230792	SCV001150692	likely benign	not provided	2019-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001011360	SCV001171669	likely benign	Hereditary cancer-predisposing syndrome	2019-04-16	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab	RCV001085695	SCV002041335	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001011360	SCV002532784	benign	Hereditary cancer-predisposing syndrome	2021-03-29	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003897525	SCV004712068	likely benign	TSC2-related condition	2023-01-07	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).