Submissions for variant NM_003072.5(SMARCA4):c.1791T>G (p.Pro597=)

gnomAD frequency: 0.00038  dbSNP: rs141806282

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193582	SCV000248952	uncertain significance	not specified	2015-06-01	criteria provided, single submitter	clinical testing
Invitae	RCV000226019	SCV000285997	benign	Rhabdoid tumor predisposition syndrome 2	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000334274	SCV000410478	benign	Coffin-Siris 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	RCV001705089	SCV000529853	likely benign	not provided	2021-10-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000568767	SCV000663868	likely benign	Hereditary cancer-predisposing syndrome	2015-06-15	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.
Genome-Nilou Lab	RCV001808535	SCV002056168	likely benign	Intellectual disability, autosomal dominant 16	2021-07-15	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000568767	SCV002532798	benign	Hereditary cancer-predisposing syndrome	2020-12-18	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001705089	SCV004139556	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	SMARCA4: BP4, BP7