Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000250370 | SCV000313066 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV002401959 | SCV002706164 | uncertain significance | Primary ciliary dyskinesia | 2021-11-19 | criteria provided, single submitter | clinical testing | The p.E511Q variant (also known as c.1531G>C), located in coding exon 10 of the CCDC40 gene, results from a G to C substitution at nucleotide position 1531. The glutamic acid at codon 511 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. |