Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000705572 | SCV000834574 | benign | Primary ciliary dyskinesia | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000705572 | SCV002618821 | uncertain significance | Primary ciliary dyskinesia | 2017-06-28 | criteria provided, single submitter | clinical testing | The p.P119A variant (also known as c.355C>G), located in coding exon 2 of the DNAH11 gene, results from a C to G substitution at nucleotide position 355. The proline at codon 119 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is highly 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. |