Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CFTR2 | RCV000410620 | SCV000245911 | pathogenic | Cystic fibrosis | 2017-03-17 | reviewed by expert panel | research | |
Counsyl | RCV000410620 | SCV000485595 | likely pathogenic | Cystic fibrosis | 2016-01-14 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000410620 | SCV000886235 | pathogenic | Cystic fibrosis | 2018-11-05 | criteria provided, single submitter | clinical testing | |
CFTR- |
RCV001009393 | SCV001169246 | pathogenic | Cystic fibrosis; CFTR-related disorder | 2018-01-29 | criteria provided, single submitter | curation | when the variant is in trans with another CF-causing variation, can either result in CF or in a CFTR-RD |
Labcorp Genetics |
RCV000410620 | SCV002243952 | pathogenic | Cystic fibrosis | 2024-02-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser1435Glyfs*14) in the CFTR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 46 amino acid(s) of the CFTR protein. This variant is present in population databases (rs397508709, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with CFTR-related conditions (PMID: 11101688, 30548586). This variant is also known as 4428insGA and 4296_4297insGA. ClinVar contains an entry for this variant (Variation ID: 370324). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects CFTR function (PMID: 30444886). For these reasons, this variant has been classified as Pathogenic. |
Institute of Human Genetics, |
RCV000410620 | SCV002574097 | 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: PVS1_MOD, PS3_SUP, PM2_SUP, PM3_STR, PP4 |
Baylor Genetics | RCV003470326 | SCV004215757 | pathogenic | Bronchiectasis with or without elevated sweat chloride 1 | 2022-12-30 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001833488 | SCV002075970 | pathogenic | CFTR-related disorder | 2017-03-17 | no assertion criteria provided | clinical testing |