Submissions for variant NM_000548.5(TSC2):c.1387A>G (p.Ile463Val)

gnomAD frequency: 0.00067  dbSNP: rs45517171

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163304	SCV000213832	benign	Hereditary cancer-predisposing syndrome	2015-09-24	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.
Eurofins Ntd Llc (ga)	RCV000122205	SCV000226039	likely benign	not specified	2014-11-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000713914	SCV000243542	benign	not provided	2019-07-02	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23514105, 10205261, 24728327)
Invitae	RCV001080840	SCV000285242	benign	Tuberous sclerosis 2	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000122205	SCV000305148	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000042936	SCV000395581	likely benign	Tuberous sclerosis syndrome	2018-03-12	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics Inc	RCV000713914	SCV000844558	benign	not provided	2017-12-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000713914	SCV001150691	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	TSC2: BS1
Genome-Nilou Lab	RCV001080840	SCV002041334	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163304	SCV002532783	benign	Hereditary cancer-predisposing syndrome	2020-11-01	criteria provided, single submitter	curation
Color Diagnostics, LLC DBA Color Health	RCV001080840	SCV004360863	benign	Tuberous sclerosis 2	2022-08-31	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000042936	SCV000066733	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
ITMI	RCV000122205	SCV000086426	not provided	not specified	2013-09-19	no assertion provided	reference population
Clinical Genetics, Academic Medical Center	RCV000713914	SCV002034553	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000713914	SCV002035196	likely benign	not provided		no assertion criteria provided	clinical testing