ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2267G>A (p.Gly756Asp)

dbSNP: rs1308023279
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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 RCV001391175 SCV001593074 likely pathogenic Autosomal dominant Alport syndrome criteria provided, single submitter research PM1:Located in a mutational hot spot PM2:not found in gnomAD PP2:Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease PP3:Multiple lines of computational evidence support a deleterious effect on the gene or gene product

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