Submissions for variant NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu)

dbSNP: rs797045989

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194966	SCV000248979	likely pathogenic	Intellectual disability, autosomal dominant 15	2015-05-22	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000515012	SCV000610519	likely pathogenic	not provided	2017-05-09	criteria provided, single submitter	clinical testing
3billion, Medical Genetics	RCV000194966	SCV002011943	pathogenic	Intellectual disability, autosomal dominant 15	2021-10-02	criteria provided, single submitter	clinical testing	Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogeic with strong evidence (ClinVar VCV000212263.2, PS1). 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). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.874, 3Cnet: 0.943, PP3). Patient's phenotype is considered compatible with Coffin-Siris syndrome 3 (3billion dataset, PP4). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.