Submissions for variant NM_000548.5(TSC2):c.2046G>A (p.Gly682=)

gnomAD frequency: 0.00001  dbSNP: rs749536123

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000228380	SCV000285271	benign	Tuberous sclerosis 2	2023-12-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000566898	SCV000675614	likely benign	Hereditary cancer-predisposing syndrome	2016-01-14	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	RCV000613989	SCV000724028	likely benign	not provided	2020-08-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000228380	SCV002041427	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002494627	SCV002795255	likely benign	Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2	2022-03-16	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000613989	SCV004221412	uncertain significance	not provided	2012-09-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003919920	SCV004732813	likely benign	TSC2-related condition	2021-02-10	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).