Submissions for variant NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg)

dbSNP: rs113994112

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV002247360	SCV002520196	likely pathogenic	not provided	2022-05-17	criteria provided, single submitter	clinical testing	Identified in 3 family members with porencephaly (Gould et al., 2005; van der Knapp et al., 2006); Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants at the same and in nearby residues reported in the Human Gene Mutation Database in individuals with COL4A1-related disorders (HGMD); Affects a glycine residue in a Gly-X-Y motif in the triple helical region of the COL4A1 gene, where the majority of pathogenic missense variants occur, and is predicted to disrupt normal protein folding and function (Stenson et al., 2014; Weng et al., 2012; Yoneda et al., 2013); This variant is associated with the following publications: (PMID: 24077912, 22522439, 23225343, 6428250, 16374828, 15905400)
OMIM	RCV002247361	SCV000039242	pathogenic	Brain small vessel disease 1 with or without ocular anomalies	2005-05-20	no assertion criteria provided	literature only
GeneReviews	RCV002247361	SCV000055814	not provided	Brain small vessel disease 1 with or without ocular anomalies		no assertion provided	literature only