Submissions for variant NM_000548.5(TSC2):c.4107G>A (p.Arg1369=)

dbSNP: rs201688447

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000189927	SCV000243592	benign	not specified	2014-11-22	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000468785	SCV000556535	benign	Tuberous sclerosis 2	2024-01-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001021881	SCV001183550	likely benign	Hereditary cancer-predisposing syndrome	2019-04-10	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.
Genome-Nilou Lab	RCV000468785	SCV002039425	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000468785	SCV004016208	benign	Tuberous sclerosis 2	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003390919	SCV004129854	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003895233	SCV004726084	likely benign	TSC2-related condition	2023-07-12	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).