Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000560839 | SCV000660205 | uncertain significance | Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 | 2017-04-06 | criteria provided, single submitter | clinical testing | In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this intronic variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a DNAH1-related disease. This sequence change falls in intron 75 of the DNAH1 gene. It does not directly change the encoded amino acid sequence of the DNAH1 protein. |