Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV001535918 | SCV001752566 | likely pathogenic | Autosomal recessive Alport syndrome; Benign familial hematuria | 2021-06-30 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001873797 | SCV002316117 | likely pathogenic | not provided | 2021-10-13 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with COL4A4-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 41 of the COL4A4 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL4A4 are known to be pathogenic (PMID: 21196518, 24854265, 25307543). |