Submissions for variant NM_002055.5(GFAP):c.235C>G (p.Arg79Gly)

dbSNP: rs59793293

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000056867	SCV000582679	pathogenic	not provided	2017-04-28	criteria provided, single submitter	clinical testing	The R79G variant in the GFAP gene has been reported previously in two individuals with infantile-onset Alexander disease (Gorospe et al., 2002; Jany et al., 2015). Additionally, other missense variants affecting this codon (R79C, R79H, R79P, and R79S) have been reported in association with Alexander disease (Brenner et al., 2001; Caroli et al., 2007, da Silva Pereira et al. 2013). The R79G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R79G 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. Based on this information we interpret R79G as a pathogenic variant.
Epithelial Biology; Institute of Medical Biology, Singapore	RCV000056867	SCV000087980	not provided	not provided		no assertion provided	not provided
GeneReviews	RCV000192109	SCV000222967	not provided	Alexander disease		no assertion provided	literature only