Submissions for variant NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr)

gnomAD frequency: 0.00071  dbSNP: rs45517203

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163316	SCV000213844	likely benign	Hereditary cancer-predisposing syndrome	2018-08-31	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)	RCV000175145	SCV000226581	likely benign	not specified	2014-11-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000034647	SCV000243552	benign	not provided	2019-07-08	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29489754, 29167182, 16713332, 15798777, 16391386, 15483652, 22558107, 22703879, 21309039, 15024740)
Invitae	RCV000989422	SCV000262359	benign	Tuberous sclerosis 2	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000054869	SCV000395591	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Mendelics	RCV000989422	SCV001139745	likely benign	Tuberous sclerosis 2	2019-05-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000989422	SCV002041390	benign	Tuberous sclerosis 2	2021-11-07	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000175145	SCV002069953	benign	not specified	2021-04-30	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163316	SCV002531005	benign	Hereditary cancer-predisposing syndrome	2020-11-26	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000034647	SCV003917452	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	TSC2: PM5, BS1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000034647	SCV000043530	probably not pathogenic	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Likely benign.
Tuberous sclerosis database (TSC2)	RCV000054869	SCV000067238	not provided	Tuberous sclerosis syndrome		no assertion provided	curation
Clinical Genetics, Academic Medical Center	RCV000034647	SCV001917072	likely benign	not provided		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000034647	SCV001963304	likely benign	not provided		no assertion criteria provided	clinical testing