ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.1166-1G>A

dbSNP: rs1569492951
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sydney Genome Diagnostics, Children's Hospital Westmead 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).

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