ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.743+1G>C (rs397508791)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000047247 SCV000220603 likely pathogenic Cystic fibrosis 2014-08-20 criteria provided, single submitter literature only
Invitae RCV000047247 SCV001590398 pathogenic Cystic fibrosis 2020-06-10 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 6 of the CFTR gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individuals affected with cystic fibrosis (PMID: 12454843, 19481507, 7472820, 22658665). This variant is also known as c.875+1G>C in the literature. ClinVar contains an entry for this variant (Variation ID: 54052). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants 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). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV001509316 SCV001715950 likely pathogenic not provided 2019-05-01 criteria provided, single submitter clinical testing PVS1, PM2

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