Submissions for variant NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter)

dbSNP: rs794727977

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000358610	SCV000233153	pathogenic	not provided	2014-12-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000358610	SCV000329072	pathogenic	not provided	2023-03-24	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23906836, 24901346, 28120103, 28991257, 28191890, 30349098, 32368696, 34706719, 30504930, 33084842, 32901917, 33726816)
Baylor Genetics	RCV001330749	SCV001522537	pathogenic	Coffin-Siris syndrome 1	2019-06-13	criteria provided, single submitter	clinical testing	This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Baylor Genetics	RCV001533110	SCV001748930	pathogenic	ARID1B-related BAFopathy	2021-06-10	criteria provided, single submitter	clinical testing
3billion	RCV001330749	SCV002012361	pathogenic	Coffin-Siris syndrome 1	2021-10-02	criteria provided, single submitter	clinical testing	Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). Patient's phenotype is considered compatible with Coffin-Siris Syndrome 1 (3billion dataset, PP4). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Genome-Nilou Lab	RCV001330749	SCV002054275	pathogenic	Coffin-Siris syndrome 1	2021-07-15	criteria provided, single submitter	clinical testing
University of Washington Center for Mendelian Genomics, University of Washington	RCV001291271	SCV001479697	likely pathogenic	Autism spectrum disorder		no assertion criteria provided	research
GenomeConnect - Brain Gene Registry	RCV001330749	SCV004804588	not provided	Coffin-Siris syndrome 1		no assertion provided	phenotyping only	Variant classified as Pathogenic and reported on 01-11-2016 by GeneDx. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.