Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CFTR2 | RCV000007555 | SCV000071466 | pathogenic | Cystic fibrosis | 2017-03-17 | reviewed by expert panel | research | |
CFTR- |
RCV001009522 | SCV001169617 | pathogenic | Cystic fibrosis; CFTR-related disorder | 2018-01-29 | criteria provided, single submitter | curation | the variant causes a phenotype but regarding our data, we can't formally attribute it to CF, CFTR-RD or both |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000007555 | SCV001437251 | pathogenic | Cystic fibrosis | 2020-09-21 | criteria provided, single submitter | clinical testing | Variant summary: CFTR c.1081delT (p.Trp361GlyfsX8) 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 was absent in 251020 control chromosomes (gnomAD). c.1081delT has been reported in the literature in multiple individuals affected with Cystic Fibrosis (Iannuzzi_1991, Sosnay_2013). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submitters, including one expert panel (CFTR2), (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
Labcorp Genetics |
RCV000007555 | SCV001588875 | pathogenic | Cystic fibrosis | 2021-06-29 | criteria provided, single submitter | clinical testing | 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 several individuals affected with cystic fibrosis (PMID: 1990834, 23974870). This variant is also known as 1213delT in the literature. ClinVar contains an entry for this variant (Variation ID: 7135). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp361Glyfs*8) in the CFTR gene. It is expected to result in an absent or disrupted protein product. |
Baylor Genetics | RCV003466826 | SCV004215781 | pathogenic | Bronchiectasis with or without elevated sweat chloride 1 | 2024-02-19 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000007555 | SCV000027756 | pathogenic | Cystic fibrosis | 1991-02-01 | no assertion criteria provided | literature only | |
Natera, |
RCV001831529 | SCV002078190 | pathogenic | CFTR-related disorder | 2017-03-17 | no assertion criteria provided | clinical testing |