Submissions for variant NM_000548.5(TSC2):c.4273G>A (p.Gly1425Arg)

gnomAD frequency: 0.00001  dbSNP: rs763497329

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000554219	SCV000644518	benign	Tuberous sclerosis 2	2025-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001022193	SCV001183897	likely benign	Hereditary cancer-predisposing syndrome	2022-05-05	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.
CeGaT Center for Human Genetics Tuebingen	RCV001532308	SCV001747813	uncertain significance	not provided	2021-06-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001532308	SCV001811008	likely benign	not provided	2020-11-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28250423, 23514105, 21624971)
Genome-Nilou Lab	RCV000554219	SCV002039845	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000554219	SCV004016197	benign	Tuberous sclerosis 2	2023-07-07	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000554219	SCV005404787	likely benign	Tuberous sclerosis 2	2024-08-20	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.