Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000995734 | SCV001150061 | pathogenic | X-linked Alport syndrome | 2019-01-04 | criteria provided, single submitter | clinical testing | |
Sydney Genome Diagnostics, |
RCV001328300 | SCV001449285 | pathogenic | Alport syndrome | 2018-08-28 | no assertion criteria provided | clinical testing | This patient is hemizygous for the c.1807G>A (p.Gly603Ser) variant in exon 25 of the COL4A5 gene. To our knowledge this variant has not been previously reported in the literature to be disease causing and it has not been reported in any allele population databases. However, a variant involving the same amino acid change, c.1808G>T (p.Gly603Val), has been previously reported as pathogenic in the Alport COL4A5 database (see (http://www.arup.utah.edu/database/ALPORT/ALPORT_display.php). This variant is located in the triple helix domain of collagen alpha-5 chain. It is assumed that this variant is pathogenic as it results in substitution of one of the invariant glycine residues in the triple helical domain. |