Submissions for variant NM_000548.5(TSC2):c.4008G>A (p.Ser1336=)

gnomAD frequency: 0.00007  dbSNP: rs760704956

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000538539	SCV000644497	benign	Tuberous sclerosis 2	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000573456	SCV000675555	likely benign	Hereditary cancer-predisposing syndrome	2015-08-14	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.
GeneDx	RCV001683572	SCV001899994	likely benign	not provided	2020-10-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000538539	SCV002039408	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000573456	SCV002533484	likely benign	Hereditary cancer-predisposing syndrome	2021-12-28	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002497151	SCV002809238	likely benign	Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2	2022-03-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003960337	SCV004780928	likely benign	TSC2-related condition	2022-05-20	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).