Submissions for variant NM_001845.6(COL4A1):c.3208G>A (p.Gly1070Arg)

dbSNP: rs1057523325

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000442463	SCV000531522	pathogenic	not provided	2022-01-31	criteria provided, single submitter	clinical testing	Identified in a patient from a cohort of individuals with mitochondrial disease; however, authors report an unconfirmed association to the patient phenotype (Kerr e al., 2020); 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); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32980267, 24077912, 22522439, 23225343)
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV003988844	SCV004805299	likely pathogenic	Brain small vessel disease 1 with or without ocular anomalies	2024-03-25	criteria provided, single submitter	research