ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1209+1G>T (rs397508176)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409393 SCV000486347 likely pathogenic Cystic fibrosis 2016-05-13 criteria provided, single submitter clinical testing
Mendelics RCV000409393 SCV000886305 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Invitae RCV000409393 SCV001578292 pathogenic Cystic fibrosis 2020-03-02 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 9 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 individual(s) with congenital bilateral absence of the vas deferens (PMID: 22483971). ClinVar contains an entry for this variant (Variation ID: 370916). 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.

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