Submissions for variant NM_000548.5(TSC2):c.167A>G (p.Asn56Ser)

gnomAD frequency: 0.00021  dbSNP: rs144165984

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704075	SCV000243681	benign	not provided	2019-05-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30564305, 18386375, 25637381)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226143	SCV000285256	benign	Tuberous sclerosis 2	2025-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000571093	SCV000664744	likely benign	Hereditary cancer-predisposing syndrome	2018-09-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Genome-Nilou Lab	RCV000226143	SCV002041188	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000571093	SCV002530985	likely benign	Hereditary cancer-predisposing syndrome	2021-09-05	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV000226143	SCV005404716	likely benign	Tuberous sclerosis 2	2024-08-06	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.
CSER _CC_NCGL, University of Washington	RCV000148918	SCV000190671	uncertain significance	Tuberous sclerosis syndrome	2014-06-01	flagged submission	research
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University	RCV003153433	SCV003843794	likely pathogenic	Ovarian cancer	2022-01-01	flagged submission	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004544347	SCV004761692	likely benign	TSC2-related disorder	2022-11-01	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).