Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000710864 | SCV000841170 | likely pathogenic | not provided | 2017-09-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000710864 | SCV001210492 | pathogenic | not provided | 2022-03-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 585538). Disruption of this splice site has been observed in individuals with Alport syndrome (PMID: 8651296, 22921432). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 24 of the COL4A5 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 COL4A5 are known to be pathogenic (PMID: 9195222, 10752524, 14514738, 24854265, 26809805). |
Gene |
RCV000710864 | SCV001801719 | likely pathogenic | not provided | 2020-02-04 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in in-frame deletion within a critical region. Variant damages or destroys the canonical splice donor site in intron 24, and is expected to cause abnormal gene splicing; if the splice outcome is exon skip, the loss of the encoded residues in the triple helical region is expected to disrupt normal protein folding and function; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 22921432) |