Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000021196 | SCV001149730 | pathogenic | X-linked Alport syndrome | 2018-12-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002532968 | SCV003445182 | pathogenic | not provided | 2022-09-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu254Valfs*11) in the COL4A5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A5 are known to be pathogenic (PMID: 9195222, 10752524, 14514738, 24854265, 26809805). For these reasons, this variant has been classified as Pathogenic. This variant is also known as Glu254-->frameshift. This premature translational stop signal has been observed in individual(s) with clinical features of Alport syndrome (PMID: 8738805, 33040356). This variant is not present in population databases (gnomAD no frequency). |