Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Sydney Genome Diagnostics, |
RCV001328077 | SCV001449299 | pathogenic | Alport syndrome | 2018-05-31 | no assertion criteria provided | clinical testing | This patient is hemizygous for the c.1166-1G>A variant in the COL4A5 gene. This variant abolishes the splice acceptor site and is considered to be pathogenic. This variant is reported in the Alport COL4A5 database (http://www.arup.utah.edu/database/ALPORT/ALPORT_welcome.php) by Wang et al 2012 JMD 14(6):586. The authors found this variant using cDNA analysis of skin fibroblasts and reported the variant as r.1166delG (p.A390fs). |