ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3883del (p.Ile1295fs)

dbSNP: rs397508630
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000047016 SCV000245920 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
CFTR-France RCV000047016 SCV001169348 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV000047016 SCV002236228 pathogenic Cystic fibrosis 2021-07-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 53839). This premature translational stop signal has been observed in individual(s) with cystic fibrosis (PMID: 32429104). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile1295Phefs*33) 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).
Ambry Genetics RCV000047016 SCV002623844 pathogenic Cystic fibrosis 2015-02-11 criteria provided, single submitter clinical testing The c.3883delA pathogenic mutation, located in coding exon 24 of the CFTR gene, results from a deletion of one nucleotide at position 3883, causing a translational frameshift with a predicted alternate stop codon. This mutation has been observed in 3 patients in the CFTR2 database, two of these patients were reported to have a deltaF508 mutation in trans. Pancreatic insufficiency and pulmonary symptoms were observed in these patients (Sosnay PR et al. Nat Genet. 2013;45(10):1160-7, Supplementary Table and The Clinical and Functional Translation of CFTR (CFTR2); available at http://cftr2.org. Accessed February 10, 2015). Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). Based on the supporting evidence, c.3883delA is interpreted as a disease-causing mutation.
Natera, Inc. RCV001826675 SCV002075902 pathogenic CFTR-related disorder 2017-03-17 no assertion criteria provided clinical testing

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