Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000253177 | SCV000307465 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000685303 | SCV000812781 | uncertain significance | Primary ciliary dyskinesia | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change affects codon 4426 of the DNAH11 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DNAH11 protein. This variant is present in population databases (rs773266815, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with DNAH11-related conditions. ClinVar contains an entry for this variant (Variation ID: 257871). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |