Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001387024 | SCV001587514 | pathogenic | not provided | 2020-09-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 28013382). This variant has been observed in individual(s) with Alport syndrome (PMID: 28013382, Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 587252). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 24 of the COL4A5 gene. It does not directly change the encoded amino acid sequence of the COL4A5 protein. |