ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3022del (p.Val1008fs) (rs397508482)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000046758 SCV000221031 likely pathogenic Cystic fibrosis 2015-01-15 criteria provided, single submitter literature only
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781234 SCV000919139 likely pathogenic not specified 2018-08-17 criteria provided, single submitter clinical testing Variant summary: CFTR c.3022delG (p.Val1008SerfsX15) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. p.Trp1089X, p.Tyr1092X, p.Ala1146fsX2). The variant was absent in 245950 control chromosomes. c.3022delG has been reported in the literature in individuals undergoing carrier screening. This report does not provide unequivocal conclusions about association of the variant with Cystic Fibrosis. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
CFTR-France RCV000046758 SCV001169254 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Invitae RCV000046758 SCV001591322 pathogenic Cystic fibrosis 2019-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val1008Serfs*15) in the CFTR gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with cystic fibrosis (PMID: 12544470, 20059485). ClinVar contains an entry for this variant (Variation ID: 53629). 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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