ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2538G>A (p.Trp846Ter)

dbSNP: rs267606722
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007547 SCV000087509 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Baylor Genetics RCV001004480 SCV001163525 pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
CFTR-France RCV000007547 SCV001169501 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Johns Hopkins Genomics, Johns Hopkins University RCV000007547 SCV001425310 pathogenic Cystic fibrosis 2020-03-09 criteria provided, single submitter clinical testing Disease-causing CFTR variant. See www.CFTR2.org for phenotype information.
Labcorp Genetics (formerly Invitae), Labcorp RCV000007547 SCV001583394 pathogenic Cystic fibrosis 2022-04-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Trp846*) 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 (rs267606722, gnomAD 0.0009%). This premature translational stop signal has been observed in individuals with CFTR-related conditions (PMID: 2210768, 7689897, 23974870, 25122143, 28603918). ClinVar contains an entry for this variant (Variation ID: 7127).
Baylor Genetics RCV004566689 SCV005057470 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-11-28 criteria provided, single submitter clinical testing
OMIM RCV000007547 SCV000027748 pathogenic Cystic fibrosis 1990-09-01 no assertion criteria provided literature only
Counsyl RCV000007547 SCV001132146 pathogenic Cystic fibrosis 2015-08-04 no assertion criteria provided clinical testing
Natera, Inc. RCV001826430 SCV002080762 pathogenic CFTR-related disorder 2017-03-17 no assertion criteria provided clinical testing

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