ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.1807G>A (p.Gly603Ser)

dbSNP: rs1603290681
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000995734 SCV001150061 pathogenic X-linked Alport syndrome 2019-01-04 criteria provided, single submitter clinical testing
Sydney Genome Diagnostics, Children's Hospital Westmead 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.

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