Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001957055 | SCV002252764 | likely pathogenic | not provided | 2021-04-09 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Studies have shown that this variant is associated with the activation of a cryptic splice site in intron 35 (PMID: 21505094). This variant has been observed in individual(s) with clinical features of Alport syndrome (PMID: 29959198, 21505094). ClinVar contains an entry for this variant (Variation ID: 38773). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 35 of the COL4A5 gene. It does not directly change the encoded amino acid sequence of the COL4A5 protein. RNA analysis indicates that this variant induces altered splicing and likely results in the gain of one amino acid residue(s), but is expected to preserve the integrity of the reading-frame. |