ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs)

dbSNP: rs121908775
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007640 SCV000245933 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000007640 SCV000485987 pathogenic Cystic fibrosis 2016-03-11 criteria provided, single submitter clinical testing
CFTR-France RCV000007640 SCV001169475 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV000007640 SCV001587476 pathogenic Cystic fibrosis 2024-05-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln493Valfs*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). 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: 1282016, 1284477, 23974870). This variant is also known as 1609delCA. ClinVar contains an entry for this variant (Variation ID: 7219). For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000007640 SCV002572222 pathogenic Cystic fibrosis 2022-08-22 criteria provided, single submitter clinical testing Variant summary: CFTR c.1477_1478delCA (p.Gln493ValfsX10) 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 251326 control chromosomes. c.1477_1478delCA has been reported in the literature in multiple individuals affected with Cystic Fibrosis. These data indicate that the variant is very likely to be associated with disease. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002496301 SCV002809360 pathogenic Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 2021-10-08 criteria provided, single submitter clinical testing
OMIM RCV000007640 SCV000027841 pathogenic Cystic fibrosis 1992-08-01 no assertion criteria provided literature only
Natera, Inc. RCV001826448 SCV002080601 pathogenic CFTR-related disorder 2017-03-17 no assertion criteria provided clinical testing

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