Submissions for variant NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)

gnomAD frequency: 0.00029  dbSNP: rs75820036

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000034604	SCV000169088	benign	not provided	2018-11-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25498131, 22703879, 10570911, 26332594, 16981987, 16554133, 22490766, 29740858, 30794603, 32211034)
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	RCV000234486	SCV000267545	uncertain significance	Tuberous sclerosis 1	2016-03-18	criteria provided, single submitter	reference population
Invitae	RCV000234486	SCV000284686	benign	Tuberous sclerosis 1	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000186670	SCV000303855	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000186670	SCV000334326	likely benign	not specified	2015-08-20	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000186670	SCV000540594	benign	not specified	2016-04-25	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 1.1% (95/8654) East Asian; ClinVar: 1B, 1 LB
Ambry Genetics	RCV000570330	SCV000664738	benign	Hereditary cancer-predisposing syndrome	2015-08-21	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000234486	SCV000782391	likely benign	Tuberous sclerosis 1	2016-11-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000234486	SCV001137934	benign	Tuberous sclerosis 1	2019-05-28	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000034604	SCV001146266	benign	not provided	2019-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000234486	SCV002040077	benign	Tuberous sclerosis 1	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000570330	SCV002530946	benign	Hereditary cancer-predisposing syndrome	2020-04-28	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000034604	SCV002774052	benign	not provided	2019-02-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000034604	SCV004156643	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	TSC1: BP4, BS1
Color Diagnostics, LLC DBA Color Health	RCV000234486	SCV004360820	benign	Tuberous sclerosis 1	2022-11-07	criteria provided, single submitter	clinical testing
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000034604	SCV000043512	probably not pathogenic	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Likely benign.
Tuberous sclerosis database (TSC1)	RCV000054846	SCV000065893	not provided	Tuberous sclerosis syndrome		no assertion provided	curation