Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001863706 | SCV002118199 | pathogenic | not provided | 2021-12-01 | criteria provided, single submitter | clinical testing | 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. This variant is also known as 3219‚àí1G‚ÜíA. Disruption of this splice site has been observed in individuals with clinical features of Alport syndrome (PMID: 11223851). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 34 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). |