Submissions for variant NM_000548.5(TSC2):c.2565C>T (p.His855=)

gnomAD frequency: 0.00138  dbSNP: rs143537386

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125663	SCV000169125	benign	not specified	2014-02-05	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	RCV000227872	SCV000285302	benign	Tuberous sclerosis 2	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000564700	SCV000664614	likely benign	Hereditary cancer-predisposing syndrome	2016-01-29	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.
Genome-Nilou Lab	RCV000227872	SCV002039216	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000564700	SCV002531089	benign	Hereditary cancer-predisposing syndrome	2021-05-07	criteria provided, single submitter	curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000125663	SCV002598663	benign	not specified	2022-09-12	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000125663	SCV002774071	benign	not specified	2021-08-06	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002505089	SCV002808630	likely benign	Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2	2022-05-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003311684	SCV004010425	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BP7, BS1
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000227872	SCV004016153	benign	Tuberous sclerosis 2	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV003311684	SCV005216986	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004532506	SCV004742318	benign	TSC2-related disorder	2021-03-09	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).