Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| CFTR2 | RCV000046285 | SCV000924259 | pathogenic | Cystic fibrosis | 2017-12-08 | reviewed by expert panel | research | |
| Counsyl | RCV000046285 | SCV000486665 | likely pathogenic | Cystic fibrosis | 2016-07-19 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV001004448 | SCV001163493 | pathogenic | Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation | criteria provided, single submitter | clinical testing | ||
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000046285 | SCV001362618 | pathogenic | Cystic fibrosis | 2023-06-14 | criteria provided, single submitter | clinical testing | Variant summary: CFTR c.1373delG (p.Gly458AspfsX11) results in a premature termination codon, predicted to cause an absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 4.1e-06 in 244091 control chromosomes, predominantly at a frequency of 6.5e-05 within the African or African-American subpopulation in the gnomAD database. c.1373delG has been reported in the literature in an African American individual affected with Cystic Fibrosis (example, Macek_1997). The following publications have been ascertained in the context of this evaluation (PMID: 9150159, 16049310). Multiple clinical diagnostic laboratories and the CFTR2 database have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Invitae | RCV000046285 | SCV003002569 | pathogenic | Cystic fibrosis | 2022-04-28 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with cystic fibrosis (PMID: 9150159). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Gly458Aspfs*11) 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). This variant is also known as 1504delG. ClinVar contains an entry for this variant (Variation ID: 53237). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV003473451 | SCV004213522 | pathogenic | Bronchiectasis with or without elevated sweat chloride 1 | 2023-04-19 | criteria provided, single submitter | clinical testing | |
| Clinical Molecular Genetics Laboratory, |
RCV000046285 | SCV000692321 | pathogenic | Cystic fibrosis | 2015-10-28 | no assertion criteria provided | clinical testing |