ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2589_2599del (p.Ile864fs)

dbSNP: rs397508400
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000046624 SCV000245960 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
CFTR-France RCV000046624 SCV001169491 pathogenic Cystic fibrosis 2018-03-26 criteria provided, single submitter curation
Institute of Human Genetics, University of Leipzig Medical Center RCV000046624 SCV002574057 pathogenic Cystic fibrosis 2022-09-05 criteria provided, single submitter curation This variant was identified in 5 unrelated patients with a clinically confirmed diagnosis of cystic fibrosis. The variant was classified in the context of a project re-classifying variants in the German Cystic Fibrosis Registry (Muko.e.V.). Link: https://www.muko.info/angebote/qualitaetsmanagement/register/cf-einrichtungen/mukoweb. Criteria applied: PVS1, PM2_SUP, PM3_STR, PP4
MGZ Medical Genetics Center RCV000046624 SCV002580770 pathogenic Cystic fibrosis 2022-01-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000046624 SCV003440103 pathogenic Cystic fibrosis 2024-10-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile864Serfs*28) 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 cystic fibrosis (PMID: 7508414). This variant is also known as 2721del11. ClinVar contains an entry for this variant (Variation ID: 53516). For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000046624 SCV003844416 pathogenic Cystic fibrosis 2023-02-07 criteria provided, single submitter clinical testing Variant summary: CFTR c.2589_2599del11 (p.Ile864SerfsX28), also referred to as 2721del11, 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 251320 control chromosomes (gnomAD). c.2589_2599del11 has been reported in the literature in the compound heterozygous state in multiple individuals affected with Cystic Fibrosis (e.g. Cuppens_1993, Sobczynska-Tomaszewska_2013, Petrova_2019, Nowak_2019). These data indicate that the variant is very likely to be associated with disease. Five submitters have provided clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics RCV003473489 SCV004213322 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-10-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV000046624 SCV001461246 pathogenic Cystic fibrosis 2020-09-16 no assertion criteria provided clinical testing

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