Submissions for variant NM_000548.5(TSC2):c.1735C>G (p.Pro579Ala)

dbSNP: rs45517196

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001703936	SCV000243550	benign	not provided	2021-03-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000468114	SCV000556512	benign	Tuberous sclerosis 2	2025-01-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000560994	SCV000675695	benign	Hereditary cancer-predisposing syndrome	2021-11-02	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.
Genome-Nilou Lab	RCV000468114	SCV002039572	likely benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000560994	SCV002530993	benign	Hereditary cancer-predisposing syndrome	2021-09-04	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV000042883	SCV004819306	benign	Tuberous sclerosis syndrome	2024-03-25	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000468114	SCV005406314	likely benign	Tuberous sclerosis 2	2024-08-09	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.
Tuberous sclerosis database (TSC2)	RCV000042883	SCV000066679	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
PreventionGenetics, part of Exact Sciences	RCV004734596	SCV005350429	benign	TSC2-related disorder	2024-05-08	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).