Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Clinical Laboratory Science, |
RCV001078190 | SCV001190328 | pathogenic | X-linked Alport syndrome | 2017-05-21 | no assertion criteria provided | in vitro | A heterozygous variation c.2917 + 1G > A was found in intron 33 of COL4A5 gene of proband, which is a new variation. Sanger sequencing confirmed that the mutation was co isolated from the disease in the family. In vitro minigene experiment showed that the mutation of c.2917 + 1G> A could result in the deletion of 96 bases in exon 33 of COL4A5 gene |