Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000410790 | SCV000485707 | likely pathogenic | Cystic fibrosis | 2016-02-01 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV001004514 | SCV001163559 | likely pathogenic | Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation | criteria provided, single submitter | clinical testing | ||
| Institute of Human Genetics, |
RCV000410790 | SCV002573875 | 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: PVS1, PM2_SUP, PP4 |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000410790 | SCV002819945 | likely pathogenic | Cystic fibrosis | 2022-12-05 | criteria provided, single submitter | clinical testing | Variant summary: CFTR c.3988_3989delCA (p.Gln1330ValfsX6) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 3.9e-06 in 253512 control chromosomes (gnomAD, Zou_2018). c.3988_3989delCA has been reported in the literature in at least one individual affected with Congenital bilateral absence of vas deferens (CBAVD, Wang_2020). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submitters have assessed the variant since 2014: one classified the variant as likely pathogenic and one as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Labcorp Genetics |
RCV000410790 | SCV002963078 | pathogenic | Cystic fibrosis | 2023-08-21 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 370397). This variant is also known as c.3987_3988delAC (p.E1329fs). This premature translational stop signal has been observed in individual(s) with clinical features of cystic fibrosis (PMID: 32020786). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1330Valfs*6) in the CFTR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV004567876 | SCV005057431 | likely pathogenic | Bronchiectasis with or without elevated sweat chloride 1 | 2024-02-25 | criteria provided, single submitter | clinical testing |