Submissions for variant NM_003072.5(SMARCA4):c.948T>A (p.Pro316=)

dbSNP: rs1599968129

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV001019401	SCV001180755	likely benign	Hereditary cancer-predisposing syndrome	2018-06-29	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.
Invitae	RCV001069992	SCV001235198	uncertain significance	Rhabdoid tumor predisposition syndrome 2	2021-10-01	criteria provided, single submitter	clinical testing	In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with SMARCA4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 316 of the SMARCA4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SMARCA4 protein.
Genome-Nilou Lab	RCV001809922	SCV002056154	uncertain significance	Intellectual disability, autosomal dominant 16	2021-07-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003883528	SCV004698961	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	SMARCA4: PM2:Supporting, BP4, BP7