Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000629268 | SCV000750203 | benign | Primary ciliary dyskinesia | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001555784 | SCV001777251 | uncertain significance | not provided | 2021-04-12 | criteria provided, single submitter | clinical testing | Identified in the heterozygous state without a second DNAH11 variant in an individual with primary ciliary dyskinesia; this individual also harbored a single heterozygous variant in the GAS8 gene (De Jesus-Rojas et al., 2021); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 33670432) |
UNC Molecular Genetics Laboratory, |
RCV000629268 | SCV001810024 | uncertain significance | Primary ciliary dyskinesia | 2021-02-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000629268 | SCV002677642 | uncertain significance | Primary ciliary dyskinesia | 2021-01-11 | criteria provided, single submitter | clinical testing | The p.L2698S variant (also known as c.8093T>C), located in coding exon 49 of the DNAH11 gene, results from a T to C substitution at nucleotide position 8093. The leucine at codon 2698 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |