Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001239879 | SCV001412782 | uncertain significance | Cystic fibrosis | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with asparagine at codon 828 of the CFTR protein (p.Asp828Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs759726447, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with CFTR-related conditions. 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. 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. |
Ambry Genetics | RCV001239879 | SCV003855876 | uncertain significance | Cystic fibrosis | 2023-02-13 | criteria provided, single submitter | clinical testing | The p.D828N variant (also known as c.2482G>A), located in coding exon 14 of the CFTR gene, results from a G to A substitution at nucleotide position 2482. The aspartic acid at codon 828 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001834105 | SCV002080755 | uncertain significance | CFTR-related disorders | 2018-09-13 | no assertion criteria provided | clinical testing |