Submissions for variant NM_000368.5(TSC1):c.3133C>G (p.Leu1045Val)

dbSNP: rs747162992

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000684976	SCV000812443	benign	Tuberous sclerosis 1	2024-12-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001018760	SCV001180033	benign	Hereditary cancer-predisposing syndrome	2022-04-11	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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	RCV001675952	SCV001894376	benign	not provided	2021-01-16	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000684976	SCV002040010	likely benign	Tuberous sclerosis 1	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001018760	SCV002531427	likely benign	Hereditary cancer-predisposing syndrome	2021-07-27	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001675952	SCV004156640	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	TSC1: BS1
Myriad Genetics, Inc.	RCV000684976	SCV005407582	likely benign	Tuberous sclerosis 1	2024-08-15	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
PreventionGenetics, part of Exact Sciences	RCV004745550	SCV005365542	likely benign	TSC1-related disorder	2024-05-05	no assertion criteria provided	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).