Submissions for variant NM_000548.5(TSC2):c.1593C>T (p.Ile531=)

gnomAD frequency: 0.00051  dbSNP: rs45517180

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125652	SCV000169113	benign	not specified	2013-10-23	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	RCV000232007	SCV000285249	benign	Tuberous sclerosis 2	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000125652	SCV000305153	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000042419	SCV000395584	likely benign	Tuberous sclerosis syndrome	2018-05-03	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.
Ambry Genetics	RCV000565125	SCV000664600	likely benign	Hereditary cancer-predisposing syndrome	2014-12-01	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.
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University	RCV000232007	SCV001430721	likely benign	Tuberous sclerosis 2	2020-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000232007	SCV002041355	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000125652	SCV002041596	benign	not specified	2021-11-30	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002483038	SCV002803746	benign	Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2	2021-08-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001579458	SCV003917451	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BP7, BS1
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000232007	SCV004016156	benign	Tuberous sclerosis 2	2023-07-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000232007	SCV004360866	benign	Tuberous sclerosis 2	2022-09-07	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000042419	SCV000066210	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579458	SCV001807329	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000125652	SCV001972757	benign	not specified		no assertion criteria provided	clinical testing