Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671890 | SCV000796921 | pathogenic | Autosomal recessive Alport syndrome | 2018-01-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001389289 | SCV001590598 | pathogenic | not provided | 2020-01-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in COL4A3 are known to be pathogenic (PMID: 8956999, 24854265, 26809805, 27281700). This variant has been observed in individual(s) with Alport syndrome (PMID: 24052634). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly680Aspfs*70) in the COL4A3 gene. It is expected to result in an absent or disrupted protein product. |