Submissions for variant NM_000548.5(TSC2):c.3744C>T (p.Ala1248=)

gnomAD frequency: 0.00027  dbSNP: rs45517307

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125676	SCV000169138	benign	not specified	2013-07-17	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	RCV001080729	SCV000285362	benign	Tuberous sclerosis 2	2024-01-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000125676	SCV000305202	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000042808	SCV000395632	likely benign	Tuberous sclerosis syndrome	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Ambry Genetics	RCV000566042	SCV000675525	likely benign	Hereditary cancer-predisposing syndrome	2015-03-09	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.
CeGaT Center for Human Genetics Tuebingen	RCV000227641	SCV001150713	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000227641	SCV001473887	likely benign	not provided	2020-01-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001080729	SCV002039367	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000566042	SCV002533445	benign	Hereditary cancer-predisposing syndrome	2020-10-16	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000227641	SCV004221442	benign	not provided	2018-06-13	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001080729	SCV004360904	benign	Tuberous sclerosis 2	2022-10-03	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000042808	SCV000066604	not provided	Tuberous sclerosis syndrome		no assertion provided	curation