Submissions for variant NM_000548.5(TSC2):c.4077C>T (p.Ile1359=)

gnomAD frequency: 0.00002  dbSNP: rs150999168

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724257	SCV000229691	uncertain significance	not provided	2014-12-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000189925	SCV000243590	benign	not specified	2014-06-13	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	RCV001082491	SCV000262356	benign	Tuberous sclerosis 2	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001021817	SCV001183482	likely benign	Hereditary cancer-predisposing syndrome	2015-10-15	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	RCV001082491	SCV002039820	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001021817	SCV002533498	benign	Hereditary cancer-predisposing syndrome	2020-10-06	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003907607	SCV004730005	likely benign	TSC2-related condition	2019-04-01	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).