Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543304 | SCV000624129 | likely benign | Primary ciliary dyskinesia | 2023-11-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000543304 | SCV002632153 | uncertain significance | Primary ciliary dyskinesia | 2021-10-29 | criteria provided, single submitter | clinical testing | The p.R1445Q variant (also known as c.4334G>A), located in coding exon 24 of the DNAH11 gene, results from a G to A substitution at nucleotide position 4334. The arginine at codon 1445 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |