Submissions for variant NM_000548.5(TSC2):c.586G>A (p.Ala196Thr)

gnomAD frequency: 0.00003  dbSNP: rs45517113

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001719786	SCV000243634	likely benign	not provided	2021-04-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 18302728, 21309039)
Invitae	RCV000473187	SCV000556610	benign	Tuberous sclerosis 2	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001024627	SCV001186673	likely benign	Hereditary cancer-predisposing syndrome	2021-11-04	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	RCV000473187	SCV002041080	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001024627	SCV002534078	likely benign	Hereditary cancer-predisposing syndrome	2021-04-12	criteria provided, single submitter	curation
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University	RCV003153330	SCV003843719	likely pathogenic	Ovarian cancer	2022-01-01	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000043220	SCV000067021	not provided	Tuberous sclerosis syndrome		no assertion provided	curation