ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2405G>C (p.Gly802Ala)

dbSNP: rs1301668632
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498175 SCV000590237 uncertain significance not provided 2017-06-08 criteria provided, single submitter clinical testing The G802A variant in the COL4A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G802A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G802A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species and occurs at a G-X-Y motif within a triple helical region. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G802A as a variant of uncertain significance.

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