ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3718-5_3725del

dbSNP: rs2116166586
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001376841 SCV001574014 likely pathogenic Cystic fibrosis 2020-09-22 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 23 (c.3718-5_3725del) 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). This variant has not been reported in the literature in individuals with CFTR-related conditions. Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). 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.

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