ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3769G>A (p.Gly1257Arg)

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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 RCV001391122 SCV001593075 likely pathogenic Alport syndrome, autosomal recessive 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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