Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV001264050 | SCV001442150 | likely pathogenic | Autosomal recessive Alport syndrome | 2019-04-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002537665 | SCV003299618 | pathogenic | not provided | 2023-10-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser1116*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL4A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 984045). For these reasons, this variant has been classified as Pathogenic. |