ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2658-1G>C

dbSNP: rs397508416
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000190990 SCV000245915 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
CFTR-France RCV000190990 SCV001169519 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Invitae RCV000190990 SCV002107681 likely pathogenic Cystic fibrosis 2023-12-19 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 16 of the CFTR gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). This variant is present in population databases (no rsID available, gnomAD 0.003%). Disruption of this splice site has been observed in individual(s) with cystic fibrosis (PMID: 25580864). This variant is also known as c.2790-1G>C. ClinVar contains an entry for this variant (Variation ID: 209045). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Natera, Inc. RCV001833133 SCV002080786 pathogenic CFTR-related disorders 2017-03-17 no assertion criteria provided clinical testing

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