Submissions for variant NM_000548.5(TSC2):c.5028G>A (p.Leu1676=)

gnomAD frequency: 0.00026  dbSNP: rs45475501

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163968	SCV000214568	likely benign	Hereditary cancer-predisposing syndrome	2014-12-15	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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	RCV000189939	SCV000243606	benign	not specified	2014-07-21	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000234249	SCV000285433	benign	Tuberous sclerosis 2	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000189939	SCV000305237	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000189939	SCV000341743	likely benign	not specified	2016-06-06	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000043272	SCV000395671	likely benign	Tuberous sclerosis syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University	RCV000234249	SCV001430725	likely benign	Tuberous sclerosis 2	2020-07-10	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000234249	SCV001528545	uncertain significance	Tuberous sclerosis 2	2018-01-18	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab	RCV000234249	SCV002040244	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163968	SCV002534005	benign	Hereditary cancer-predisposing syndrome	2021-03-05	criteria provided, single submitter	curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000189939	SCV003844220	benign	not specified	2023-02-25	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000234249	SCV004016142	benign	Tuberous sclerosis 2	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003390737	SCV004129878	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BP7, BS1
Color Diagnostics, LLC DBA Color Health	RCV000234249	SCV004360931	benign	Tuberous sclerosis 2	2022-09-30	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000043272	SCV004815032	benign	Tuberous sclerosis syndrome	2023-12-18	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000043272	SCV000067074	not provided	Tuberous sclerosis syndrome		no assertion provided	curation