Submissions for variant NM_003070.5(SMARCA2):c.2554G>A (p.Glu852Lys)

dbSNP: rs281875199

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000059660	SCV000583144	pathogenic	not provided	2017-05-24	criteria provided, single submitter	clinical testing	The E852K variant in the SMARCA2 gene has been reported previously in two unrelated individuals with Nicolaides-Baraitser syndrome, for one individual the variant was paternally inherited and for the other individual the variant was de novo (Van Houdt et al., 2012; Wieczorek et al., 2013). The E852K variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E852K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret E852K as a pathogenic variant.
UniProtKB/Swiss-Prot	RCV000059660	SCV000091230	not provided	not provided		no assertion provided	not provided
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University	RCV003326346	SCV003838979	pathogenic	Blepharophimosis-impaired intellectual development syndrome		no assertion criteria provided	clinical testing