Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001240548 | SCV001413505 | uncertain significance | Cystic fibrosis | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with valine at codon 24 of the CFTR protein (p.Leu24Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 | RCV001240548 | SCV002666865 | uncertain significance | Cystic fibrosis | 2021-09-09 | criteria provided, single submitter | clinical testing | The p.L24V variant (also known as c.70T>G), located in coding exon 2 of the CFTR gene, results from a T to G substitution at nucleotide position 70. The leucine at codon 24 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002480799 | SCV002774542 | uncertain significance | not provided | 2021-08-20 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002480798 | SCV002792180 | uncertain significance | Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation | 2021-07-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001828955 | SCV002080066 | uncertain significance | CFTR-related disorder | 2018-06-11 | no assertion criteria provided | clinical testing |