Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000505603 | SCV000793901 | likely pathogenic | Autosomal recessive Alport syndrome | 2017-09-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001535988 | SCV001752659 | likely pathogenic | Autosomal recessive Alport syndrome; Benign familial hematuria | 2021-06-30 | criteria provided, single submitter | clinical testing | |
Centogene AG - |
RCV000505603 | SCV002098117 | likely pathogenic | Autosomal recessive Alport syndrome | 2022-02-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001857239 | SCV002205053 | pathogenic | not provided | 2021-08-25 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 9 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). This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of autosomal recessive Alport syndrome (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 438704). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000505603 | SCV000599862 | pathogenic | Autosomal recessive Alport syndrome | 2017-04-20 | no assertion criteria provided | clinical testing |