Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000249620 | SCV000313057 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000529188 | SCV000624377 | benign | Primary ciliary dyskinesia | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000529188 | SCV002659024 | uncertain significance | Primary ciliary dyskinesia | 2022-02-24 | criteria provided, single submitter | clinical testing | The p.I407T variant (also known as c.1220T>C), located in coding exon 8 of the CCDC40 gene, results from a T to C substitution at nucleotide position 1220. The isoleucine at codon 407 is replaced by threonine, an amino acid with similar 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. |