Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV001264040 | SCV001442140 | likely pathogenic | Autosomal recessive Alport syndrome | 2019-12-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003542339 | SCV004244709 | pathogenic | not provided | 2023-11-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu405*) in the COL4A3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A3 are known to be pathogenic (PMID: 8956999, 24854265, 26809805, 27281700). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with COL4A3-related conditions (PMID: 35497790). ClinVar contains an entry for this variant (Variation ID: 984035). For these reasons, this variant has been classified as Pathogenic. |