ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.4441C>T (p.Gln1481Ter)

dbSNP: rs1603323278
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV000993763 SCV001142737 pathogenic X-linked Alport syndrome no assertion criteria provided clinical testing The variant was not found in gnomAD: PM2. It is predicted to undergo NMD and present in the relevant transcript: PVS1. It is predicted to be pathogenic (CADD score of 39): PP3.

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