ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2583del (p.Phe861fs)

dbSNP: rs397508399
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000056368 SCV000071477 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000056368 SCV000486703 pathogenic Cystic fibrosis 2016-07-21 criteria provided, single submitter clinical testing
Mendelics RCV000056368 SCV000886242 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
CFTR-France RCV000056368 SCV001169489 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000056368 SCV001362617 pathogenic Cystic fibrosis 2019-07-29 criteria provided, single submitter clinical testing Variant summary: CFTR c.2583delT (p.Phe861LeufsX3) 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 251322 control chromosomes. c.2583delT has been reported in the literature in multiple individuals affected with Cystic Fibrosis (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 clinical diagnostic laboratories and one expert panel (CFTR2) have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics RCV003473488 SCV004213283 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-10-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000056368 SCV004679586 pathogenic Cystic fibrosis 2024-01-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe861Leufs*3) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of cystic fibrosis (PMID: 7581406, 21184098). This variant is also known as c.2711delT. ClinVar contains an entry for this variant (Variation ID: 53515). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005031499 SCV005673364 pathogenic Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 2024-02-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001027906 SCV001190629 pathogenic CFTR-related disorder 2019-05-20 no assertion criteria provided clinical testing

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