Submissions for variant NM_000548.5(TSC2):c.4298C>T (p.Ser1433Leu)

gnomAD frequency: 0.00002  dbSNP: rs45517335

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001719804	SCV000243596	likely benign	not provided	2020-05-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 18854862, 21520333)
Invitae	RCV000228931	SCV000285394	benign	Tuberous sclerosis 2	2024-01-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000189930	SCV000305219	likely benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000569085	SCV000675500	likely benign	Hereditary cancer-predisposing syndrome	2018-05-08	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	RCV000228931	SCV002039447	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000189930	SCV002070410	likely benign	not specified	2021-12-16	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000055410	SCV000083631	not provided	Tuberous sclerosis syndrome		no assertion provided	curation