Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000021478 | SCV000889955 | pathogenic | X-linked Alport syndrome | 2017-10-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001240569 | SCV001413529 | pathogenic | not provided | 2022-12-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 24599). This premature translational stop signal has been observed in individual(s) with clinical features of Alport syndrome (PMID: 9848783). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly1060*) 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). |