ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2908+1G>A (rs1060503164)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465662 SCV000552136 likely pathogenic Cystic fibrosis 2018-07-13 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 17 of the CFTR gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been reported in the literature in an individual with cystic fibrosis (PMID: 26708955). In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in CFTR are known to be pathogenic (PMID: 23974870, 12940920). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.
CFTR-France RCV000465662 SCV001169520 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation

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