Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000538177 | SCV000624403 | uncertain significance | Primary ciliary dyskinesia | 2017-02-10 | criteria provided, single submitter | clinical testing | In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. 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, but these predictions have not been confirmed by published functional studies. This variant is present in population databases (rs372360189, ExAC 0.003%) but has not been reported in the literature in individuals with a CCDC40-related disease. This sequence change replaces glutamic acid with lysine at codon 213 of the CCDC40 protein (p.Glu213Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. |
| Ambry Genetics | RCV003343892 | SCV004061344 | uncertain significance | Inborn genetic diseases | 2023-09-13 | criteria provided, single submitter | clinical testing | The c.637G>A (p.E213K) alteration is located in exon 4 (coding exon 4) of the CCDC40 gene. This alteration results from a G to A substitution at nucleotide position 637, causing the glutamic acid (E) at amino acid position 213 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |