Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670484 | SCV000795341 | likely pathogenic | Autosomal recessive Alport syndrome | 2017-11-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003669166 | SCV004388575 | pathogenic | not provided | 2023-01-09 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 554793). This variant has not been reported in the literature in individuals affected with COL4A4-related conditions. This sequence change creates a premature translational stop signal (p.Trp24*) in the COL4A4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A4 are known to be pathogenic (PMID: 21196518, 24854265, 25307543). |