ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.276+2dup

dbSNP: rs2065934135
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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 RCV001328074 SCV001449295 likely pathogenic Alport syndrome 2018-08-27 no assertion criteria provided clinical testing This patient is heterozygous for the c.276+2dup variant in intron 4 of the COL4A5 gene. The variant has not been reported in any population databases (i.e. ExAC browser, ESP or dbSNP). To our knowledge, this variant has not been reported as being associated with disease in the literature or any other databases. In silico analysis (Alamut Visual v2.7.2) predicts that this variant abolishes the consensus splice donor site at c.276, resulting in the skipping of exon 4, and is likely to be pathogenic.

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