Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000203741 | SCV000260148 | uncertain significance | Primary ciliary dyskinesia | 2022-07-05 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 219955). This variant has not been reported in the literature in individuals affected with CCDC40-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 576 of the CCDC40 protein (p.Gln576Glu). |
Ambry Genetics | RCV000203741 | SCV002716666 | uncertain significance | Primary ciliary dyskinesia | 2022-05-24 | criteria provided, single submitter | clinical testing | The p.Q576E variant (also known as c.1726C>G), located in coding exon 11 of the CCDC40 gene, results from a C to G substitution at nucleotide position 1726. The glutamine at codon 576 is replaced by glutamic acid, 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. |