ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3208G>A (p.Gly1070Arg) (rs1057523325)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442463 SCV000531522 likely pathogenic not provided 2016-09-09 criteria provided, single submitter clinical testing The G1070R variant in the COL4A1 gene has not been reported previously as a pathogenic variant,nor as a benign variant, to our knowledge. The G1070R variant was not observed in approximately6500 individuals of European and African American ancestry in the NHLBI Exome SequencingProject, indicating it is not a common benign variant in these populations. The G1070R variant is anon-conservative amino acid substitution, which is likely to impact secondary protein structure asthese residues differ in polarity, charge, size and/or other properties. This substitution occurs at aposition that is conserved across species and in silico analysis predicts this variant is probablydamaging to the protein structure/function. This substitution replaces a Glycine residue with anArginine in the Gly-X-Y repeat in the triple helical region of the protein. A missense variant in anearby residues (G1067A) has been reported in the Human Gene Mutation Database in association withfamilial porencephaly (Stenson et al., 2014), supporting the functional importance of this region ofthe protein. The G1070R variant is a strong candidate for a pathogenic variant.

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