Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Neuberg Centre For Genomic Medicine, |
RCV003340768 | SCV004047475 | likely pathogenic | Cystic fibrosis | criteria provided, single submitter | clinical testing | The frameshift variant c.1871_1878del (p.Ser624IlefsTer15) in CFTR has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ser624IlefsTer15 variant has allele frequency 0.0004% in gnomAD exomes and is novel (not in any individuals) in 1000 Genomes. This variant has not been reported to the ClinVar database. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003340768 | SCV004803360 | pathogenic | Cystic fibrosis | 2024-01-15 | criteria provided, single submitter | clinical testing | Variant summary: CFTR c.1871_1878delGCTATTTT (p.Ser624IlefsX15) 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 allele was found at a frequency of 4.1e-06 in 243716 control chromosomes. To our knowledge, no occurrence of c.1871_1878delGCTATTTT in individuals affected with Cystic Fibrosis and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 2584868). Based on the evidence outlined above, the variant was classified as pathogenic. |
| Baylor Genetics | RCV004572938 | SCV005057423 | pathogenic | Bronchiectasis with or without elevated sweat chloride 1 | 2024-03-07 | criteria provided, single submitter | clinical testing |