Submissions for variant NM_000548.5(TSC2):c.4869C>T (p.Thr1623=)

gnomAD frequency: 0.00041  dbSNP: rs150239180

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000227246	SCV000285425	benign	Tuberous sclerosis 2	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000570864	SCV000675512	likely benign	Hereditary cancer-predisposing syndrome	2014-11-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV001596996	SCV001830429	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000227246	SCV002039867	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000570864	SCV002533982	benign	Hereditary cancer-predisposing syndrome	2021-08-24	criteria provided, single submitter	curation
Color Diagnostics, LLC DBA Color Health	RCV000227246	SCV004360925	benign	Tuberous sclerosis 2	2022-10-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003947751	SCV004759303	likely benign	TSC2-related condition	2019-10-10	criteria provided, single submitter	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).