ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter)

gnomAD frequency: 0.00001  dbSNP: rs121908754
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007571 SCV000245954 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Myriad Genetics, Inc. RCV000007571 SCV001193805 likely pathogenic Cystic fibrosis 2019-11-12 criteria provided, single submitter clinical testing NM_000492.3(CFTR):c.1572C>A(C524*) is classified as likely pathogenic in the context of cystic fibrosis. Sources cited for classification include the following: PMID 9003508 and 1284466. Classification of NM_000492.3(CFTR):c.1572C>A(C524*) is based on the following criteria: The variant causes a premature termination codon that is expected to be targeted by nonsense-mediated mRNA decay and is observed in an individual with the relevant phenotype. Please note: this variant was assessed in the context of healthy population screening.
Labcorp Genetics (formerly Invitae), Labcorp RCV000007571 SCV001579747 pathogenic Cystic fibrosis 2019-12-19 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). This variant has been observed in individual(s) with cystic fibrosis (PMID: 1284466, 27717243). ClinVar contains an entry for this variant (Variation ID: 7151). This sequence change creates a premature translational stop signal (p.Cys524*) in the CFTR gene. It is expected to result in an absent or disrupted protein product.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000007571 SCV004020653 pathogenic Cystic fibrosis 2023-06-14 criteria provided, single submitter clinical testing Variant summary: CFTR c.1572C>A (p.Cys524X) 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. The variant allele was found at a frequency of 4e-06 in 250906 control chromosomes. c.1572C>A has been reported in the literature in individuals affected with Cystic Fibrosis (example, Shuber_1997, Zheng_2017, McCague_2019, Chen_2021, Bresnick_2021). These data indicate that the variant is likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 34857524, 34315429, 30888834, 9147636, 27717243). Multiple clinical diagnostic laboratories and a database (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 RCV003466827 SCV004215778 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2022-05-09 criteria provided, single submitter clinical testing
OMIM RCV000007571 SCV000027772 pathogenic Cystic fibrosis 1992-04-01 no assertion criteria provided literature only
Natera, Inc. RCV001831537 SCV002080615 pathogenic CFTR-related disorder 2017-03-17 no assertion criteria provided clinical testing

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