Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001389668 | SCV001591115 | pathogenic | not provided | 2020-09-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in COL4A5 are known to be pathogenic (PMID: 9195222, 10752524, 14514738, 24854265, 26809805). This variant has been observed in individual(s) with clinical features of Alport syndrome (PMID: 10094548). This variant is also known as 1115G>T, E305X. ClinVar contains an entry for this variant (Variation ID: 24341). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu305*) in the COL4A5 gene. It is expected to result in an absent or disrupted protein product. |