ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.697G>A (p.Gly233Arg)

dbSNP: rs2125932350
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Precision Medicine Center, Zhengzhou University RCV001391173 SCV001593072 likely pathogenic Autosomal dominant Alport syndrome criteria provided, single submitter research PM1:Located in a mutational hot spot PM2:not found in gnomAD PM5:Novel missense change at an amino acid residue where a different missense change determined to be pathogenic has been seen before PP3:Multiple lines of computational evidence support a deleterious effect on the gene or gene product

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