Total submissions: 6
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 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). 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 premature translational stop signal has been observed in individual(s) with cystic fibrosis (PMID: 9150159). 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. |
Clinical Molecular Genetics Laboratory, |
RCV000046285 | SCV000692321 | pathogenic | Cystic fibrosis | 2015-10-28 | no assertion criteria provided | clinical testing |