Submissions for variant NM_000548.5(TSC2):c.1143G>A (p.Arg381=)

gnomAD frequency: 0.00036  dbSNP: rs45517155

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001083136	SCV000285227	benign	Tuberous sclerosis 2	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000246218	SCV000305139	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000246218	SCV000515016	benign	not specified	2015-07-24	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.
Ambry Genetics	RCV000560947	SCV000675467	likely benign	Hereditary cancer-predisposing syndrome	2015-04-03	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.
Eurofins Ntd Llc (ga)	RCV000246218	SCV000855537	likely benign	not specified	2017-07-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000234777	SCV001150686	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BP7
Illumina Laboratory Services, Illumina	RCV000042928	SCV001279442	likely benign	Tuberous sclerosis syndrome	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome-Nilou Lab	RCV001083136	SCV002041134	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000560947	SCV002532753	benign	Hereditary cancer-predisposing syndrome	2020-11-30	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001083136	SCV004016195	benign	Tuberous sclerosis 2	2023-07-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001083136	SCV004360856	benign	Tuberous sclerosis 2	2022-10-20	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000042928	SCV000066725	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000234777	SCV001808796	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000234777	SCV001921887	likely benign	not provided		no assertion criteria provided	clinical testing