Submissions for variant NM_000548.5(TSC2):c.4302C>T (p.Gly1434=)

gnomAD frequency: 0.00009  dbSNP: rs137854000

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000231695	SCV000285395	benign	Tuberous sclerosis 2	2024-01-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000043166	SCV000395653	benign	Tuberous sclerosis syndrome	2018-01-13	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000432048	SCV000515045	benign	not specified	2015-04-29	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.
Ambry Genetics	RCV000575893	SCV000675584	likely benign	Hereditary cancer-predisposing syndrome	2016-03-03	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.
Eurofins Ntd Llc (ga)	RCV000432048	SCV000709002	likely benign	not specified	2017-06-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001200215	SCV001371115	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BP7, BS1
Genome-Nilou Lab	RCV000231695	SCV002039449	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000575893	SCV002533525	benign	Hereditary cancer-predisposing syndrome	2021-08-16	criteria provided, single submitter	curation
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001200215	SCV003799338	likely benign	not provided	2022-04-22	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000043166	SCV000066965	not provided	Tuberous sclerosis syndrome		no assertion provided	curation