ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.539G>A (p.Gly180Glu)

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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 RCV001391163 SCV001593059 likely pathogenic Alport syndrome 1, X-linked recessive 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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