Submissions for variant NM_003072.5(SMARCA4):c.3663G>A (p.Lys1221=)

gnomAD frequency: 0.00158  dbSNP: rs61761957

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000231118	SCV000286050	benign	Rhabdoid tumor predisposition syndrome 2	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000564684	SCV000663907	likely benign	Hereditary cancer-predisposing syndrome	2015-05-26	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.
GeneDx	RCV000608789	SCV000732697	likely benign	not specified	2017-06-15	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab	RCV001808618	SCV002057089	benign	Intellectual disability, autosomal dominant 16	2021-07-15	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000564684	SCV002532911	benign	Hereditary cancer-predisposing syndrome	2021-03-26	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV003407773	SCV004137787	benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	SMARCA4: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003937890	SCV004752755	benign	SMARCA4-related disorder	2020-02-21	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).