Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001849588 | SCV003488461 | pathogenic | Primary ciliary dyskinesia | 2021-12-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Disruption of this splice site has been observed in individual(s) with primary ciliary dyskinesia (PMID: 30067075; Invitae). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change affects an acceptor splice site in intron 26 of the DNAH5 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 DNAH5 are known to be pathogenic (PMID: 11788826, 16627867). |
Yale Center for Mendelian Genomics, |
RCV001849588 | SCV002106435 | likely pathogenic | Primary ciliary dyskinesia | 2018-08-01 | no assertion criteria provided | literature only |