Submissions for variant NM_000548.5(TSC2):c.272C>T (p.Pro91Leu)

gnomAD frequency: 0.00057  dbSNP: rs45482691

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163281	SCV000213809	benign	Hereditary cancer-predisposing syndrome	2014-07-03	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.
GeneDx	RCV001529022	SCV000243625	benign	not provided	2019-03-04	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22903760, 24728327, 12111193)
Illumina Laboratory Services, Illumina	RCV000042484	SCV000395555	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000473293	SCV000556653	benign	Tuberous sclerosis 2	2024-02-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000122218	SCV000858361	benign	not specified	2017-12-07	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000122218	SCV001476300	benign	not specified	2019-10-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000473293	SCV002041200	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001529022	SCV002585531	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	TSC2: BS1
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000473293	SCV004016194	benign	Tuberous sclerosis 2	2023-07-07	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000473293	SCV004360843	benign	Tuberous sclerosis 2	2022-09-09	criteria provided, single submitter	clinical testing
Tuberous sclerosis database (TSC2)	RCV000042484	SCV000066275	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
ITMI	RCV000122218	SCV000086439	not provided	not specified	2013-09-19	no assertion provided	reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529022	SCV001741764	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000122218	SCV001926085	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000122218	SCV001968252	benign	not specified		no assertion criteria provided	clinical testing