Submissions for variant NM_000548.5(TSC2):c.1170G>A (p.Thr390=)

gnomAD frequency: 0.00025  dbSNP: rs376144933

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163303	SCV000213831	likely benign	Hereditary cancer-predisposing syndrome	2014-08-01	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	RCV000189883	SCV000243537	benign	not specified	2014-07-18	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	RCV000232455	SCV000285229	benign	Tuberous sclerosis 2	2024-01-21	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000232455	SCV002041306	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163303	SCV002532754	benign	Hereditary cancer-predisposing syndrome	2021-05-17	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003965192	SCV004777670	benign	TSC2-related condition	2020-06-01	criteria provided, single submitter	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).