Submissions for variant NM_000548.5(TSC2):c.1029C>A (p.Thr343=)

gnomAD frequency: 0.00003  dbSNP: rs45468201

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001718884	SCV000515013	likely benign	not provided	2018-05-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17304050, 10732801)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000457035	SCV000556651	benign	Tuberous sclerosis 2	2024-11-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001017062	SCV001178086	likely benign	Hereditary cancer-predisposing syndrome	2019-01-09	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	RCV000457035	SCV002041291	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001017062	SCV002532739	likely benign	Hereditary cancer-predisposing syndrome	2021-09-01	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV003995990	SCV004817062	likely benign	Tuberous sclerosis syndrome	2023-12-18	criteria provided, single submitter	clinical testing