Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000046758 | SCV000221031 | likely pathogenic | Cystic fibrosis | 2015-01-15 | criteria provided, single submitter | literature only | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000046758 | SCV000919139 | pathogenic | Cystic fibrosis | 2023-01-08 | criteria provided, single submitter | clinical testing | Variant summary: CFTR c.3022delG (p.Val1008SerfsX15) 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. The variant was absent in 251166 control chromosomes. c.3022delG has been reported in the literature in individuals affected with Cystic Fibrosis (example, Claustres__2000, Strom_2003). Four clinical diagnostic laboratories and the CFTR-France database have submitted clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| CFTR- |
RCV000046758 | SCV001169254 | pathogenic | Cystic fibrosis | 2018-01-29 | criteria provided, single submitter | curation | |
| Labcorp Genetics |
RCV000046758 | SCV001591322 | pathogenic | Cystic fibrosis | 2019-12-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val1008Serfs*15) in the CFTR gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). This variant has been observed in individual(s) with cystic fibrosis (PMID: 12544470, 20059485). ClinVar contains an entry for this variant (Variation ID: 53629). This variant is not present in population databases (ExAC no frequency). |
| Ambry Genetics | RCV000046758 | SCV002753866 | pathogenic | Cystic fibrosis | 2020-07-15 | criteria provided, single submitter | clinical testing | The c.3022delG pathogenic mutation, located in coding exon 19 of the CFTR gene, results from a deletion of one nucleotide at nucleotide position 3022, causing a translational frameshift with a predicted alternate stop codon (p.V1008Sfs*15). This variant was identified in the homozygous state in an individual with cystic fibrosis (Strom CM et al. Genet. Med.;5:9-14). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Baylor Genetics | RCV003474565 | SCV004213282 | pathogenic | Bronchiectasis with or without elevated sweat chloride 1 | 2023-10-20 | criteria provided, single submitter | clinical testing |