Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001877808 | SCV002145885 | pathogenic | not provided | 2023-07-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1383*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Alport syndrome (PMID: 18343956). ClinVar contains an entry for this variant (Variation ID: 1374408). For these reasons, this variant has been classified as Pathogenic. |