Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CFTR- |
RCV001009436 | SCV001169452 | pathogenic | Cystic fibrosis | 2018-01-29 | criteria provided, single submitter | curation | |
Invitae | RCV001009436 | SCV001517556 | uncertain significance | Cystic fibrosis | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces tryptophan with arginine at codon 361 of the CFTR protein (p.Trp361Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with cystic fibrosis (PMID: 7518409, 10923036, 11788090, 17331079). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. |
Genome- |
RCV001009436 | SCV001822036 | uncertain significance | Cystic fibrosis | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001009436 | SCV002574044 | likely pathogenic | Cystic fibrosis | 2022-09-05 | criteria provided, single submitter | curation | This variant was identified in 2 unrelated patients with a clinically confirmed diagnosis of cystic fibrosis. The variant was classified in the context of a project re-classifying variants in the German Cystic Fibrosis Registry (Muko.e.V.). Link: https://www.muko.info/angebote/qualitaetsmanagement/register/cf-einrichtungen/mukoweb. Criteria applied: PS1, PM2_SUP, PM3, PP3, PP4 |
Natera, |
RCV001831717 | SCV002078191 | uncertain significance | CFTR-related disorders | 2021-06-02 | no assertion criteria provided | clinical testing |