Submissions for variant NM_000548.5(TSC2):c.708C>T (p.Leu236=)

gnomAD frequency: 0.00006  dbSNP: rs756121647

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163449	SCV000213996	likely benign	Hereditary cancer-predisposing syndrome	2014-12-17	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.
Invitae	RCV001079536	SCV000285470	benign	Tuberous sclerosis 2	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000307587	SCV000395564	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.
GeneDx	RCV000658730	SCV000730269	benign	not provided	2019-08-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000658730	SCV000780517	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	TSC2: BP4, BP7
Genome-Nilou Lab	RCV001079536	SCV002041254	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163449	SCV002534096	benign	Hereditary cancer-predisposing syndrome	2021-04-05	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV000307587	SCV004817006	likely benign	Tuberous sclerosis syndrome	2024-01-11	criteria provided, single submitter	clinical testing