ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.175dup (p.Arg59fs)

dbSNP: rs397508294
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000046458 SCV000245898 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
CFTR-France RCV000046458 SCV001169429 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Johns Hopkins Genomics, Johns Hopkins University RCV000046458 SCV001371809 pathogenic Cystic fibrosis 2020-01-29 criteria provided, single submitter clinical testing Disease-causing CFTR variant. See www.CFTR2.org for phenotype information.
Labcorp Genetics (formerly Invitae), Labcorp RCV000046458 SCV001382834 pathogenic Cystic fibrosis 2023-08-30 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with cystic fibrosis (PMID: 23974870, 28544683). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 487400). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg59Lysfs*10) 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).
Baylor Genetics RCV003465285 SCV004215791 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2022-01-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000046458 SCV005726956 pathogenic Cystic fibrosis 2024-11-07 criteria provided, single submitter clinical testing Variant summary: CFTR c.175dupA (p.Arg59LysfsX10) 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. The variant was absent in 250818 control chromosomes. c.175dupA has been reported in the literature in individuals affected with Cystic Fibrosis (Soltysova_2018). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 28544683). ClinVar contains an entry for this variant (Variation ID: 487400). Based on the evidence outlined above, the variant was classified as pathogenic.
Natera, Inc. RCV001834826 SCV002080083 pathogenic CFTR-related disorder 2017-03-17 no assertion criteria provided clinical testing

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