Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001203488 | SCV001374655 | likely benign | Primary ciliary dyskinesia | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001203488 | SCV002680562 | uncertain significance | Primary ciliary dyskinesia | 2019-07-31 | criteria provided, single submitter | clinical testing | The p.Q2782L variant (also known as c.8345A>T), located in coding exon 51 of the DNAH11 gene, results from an A to T substitution at nucleotide position 8345. The glutamine at codon 2782 is replaced by leucine, 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. |