ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter)

dbSNP: rs145449046
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000046586 SCV000245893 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000046586 SCV000792990 pathogenic Cystic fibrosis 2017-07-25 criteria provided, single submitter clinical testing
Mendelics RCV000046586 SCV000886261 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780127 SCV000917171 pathogenic not specified 2018-02-08 criteria provided, single submitter clinical testing Variant summary: CFTR c.2374C>T (p.Arg792X) 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 (eg. c.2491G>T, p.Glu831X; c.2551C>T, p.Arg851X; c.2554dupT, p.Tyr852fsX44). The variant was absent in 110418 control chromosomes (ExAC). The variant has been reported in CF patients in the literature in trans with pathogenic CFTR variants (Claustres_2000, des Georges_2004, Sanchez_2016, Shen_2016, Tian_2016, and Filleron_2011). One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014, which classified it as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics RCV001004475 SCV001163520 pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
CFTR-France RCV000046586 SCV001169555 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Johns Hopkins Genomics, Johns Hopkins University RCV000046586 SCV001371810 pathogenic Cystic fibrosis 2020-01-27 criteria provided, single submitter clinical testing Disease-causing CFTR variant. See www.CFTR2.org for phenotype information.
Labcorp Genetics (formerly Invitae), Labcorp RCV000046586 SCV001579718 pathogenic Cystic fibrosis 2024-03-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg792*) 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 present in population databases (rs145449046, gnomAD 0.007%). This premature translational stop signal has been observed in individuals with cystic fibrosis (PMID: 7691344, 27081564, 28603918). ClinVar contains an entry for this variant (Variation ID: 53483). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000046586 SCV002736407 pathogenic Cystic fibrosis 2023-03-10 criteria provided, single submitter clinical testing The p.R792* pathogenic mutation (also known as c.2374C>T), located in coding exon 14 of the CFTR gene, results from a C to T substitution at nucleotide position 2374. This changes the amino acid from an arginine to a stop codon within coding exon 14. This mutation was first detected in an individual with cystic fibrosis; however, the presence of a second CFTR variant was not reported (Claustres M et al. Hum Mol Genet, 1993 Aug;2:1209-13). This variant has been reported in multiple individuals with an elevated sweat chloride level in The Clinical and Functional TRanslation of CFTR (CFTR2) database (available at http://cftr2.org. Accessed 3/9/2023). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Baylor Genetics RCV004566871 SCV005057467 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-12-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826636 SCV002080737 pathogenic CFTR-related disorder 2017-03-17 no assertion criteria provided clinical testing

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