Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000823824 | SCV000964694 | likely benign | Primary ciliary dyskinesia | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000823824 | SCV003911420 | uncertain significance | Primary ciliary dyskinesia | 2022-12-18 | criteria provided, single submitter | clinical testing | The p.I1756V variant (also known as c.5266A>G), located in coding exon 30 of the DNAH11 gene, results from an A to G substitution at nucleotide position 5266. The isoleucine at codon 1756 is replaced by valine, an amino acid with highly similar properties. This amino acid position is 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. |