Submissions for variant NM_003072.5(SMARCA4):c.3975C>T (p.Arg1325=)

gnomAD frequency: 0.00009  dbSNP: rs144803359

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193724	SCV000248969	uncertain significance	not specified	2015-06-29	criteria provided, single submitter	clinical testing
Invitae	RCV000204080	SCV000261423	likely benign	Rhabdoid tumor predisposition syndrome 2	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000383134	SCV000410499	benign	Coffin-Siris 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.
Ambry Genetics	RCV000566310	SCV000663933	likely benign	Hereditary cancer-predisposing syndrome	2015-09-22	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.
CeGaT Center for Human Genetics Tuebingen	RCV001090448	SCV001246000	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	SMARCA4: BP4, BP7
GeneDx	RCV001090448	SCV001770966	likely benign	not provided	2020-06-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001808546	SCV002056216	likely benign	Intellectual disability, autosomal dominant 16	2021-07-15	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000566310	SCV002532935	benign	Hereditary cancer-predisposing syndrome	2020-12-02	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003937717	SCV004749713	likely benign	SMARCA4-related disorder	2019-05-08	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).