Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001004512 | SCV001163557 | likely pathogenic | Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation | criteria provided, single submitter | clinical testing | ||
CFTR- |
RCV001009506 | SCV001169601 | pathogenic | CFTR-related disorders | 2018-03-26 | criteria provided, single submitter | curation | |
Invitae | RCV000577150 | SCV002252626 | likely pathogenic | Cystic fibrosis | 2023-10-22 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1303 of the CFTR protein (p.Asn1303Ile). This variant is present in population databases (rs397508636, gnomAD 0.02%). This missense change has been observed in individuals with CFTR-related conditions (PMID: 9598638, 10923036). ClinVar contains an entry for this variant (Variation ID: 53846). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CFTR protein function. Experimental studies have shown that this missense change affects CFTR function (PMID: 11788611). This variant disrupts the p.Asn1303 amino acid residue in CFTR. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 21520337, 23951356, 23974870). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Institute of Human Genetics, |
RCV000577150 | SCV002573871 | likely pathogenic | Cystic fibrosis | 2022-09-05 | criteria provided, single submitter | curation | This variant was identified in 1 patient 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: PS3_SUP, PM2_SUP, PM3, PM5_STR, PP3 |
Clin |
RCV000577150 | SCV000679099 | not provided | Cystic fibrosis | no assertion provided | literature only | ||
Diagnostic Laboratory, |
RCV001530074 | SCV001744655 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001530074 | SCV001970812 | pathogenic | not provided | no assertion criteria provided | clinical testing |