ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2341C>T (p.Gln781Ter)

dbSNP: rs397508368
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001922461 SCV002171053 pathogenic Cystic fibrosis 2021-08-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CFTR-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln781*) in the CFTR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922).
Institute of Human Genetics, University of Leipzig Medical Center RCV001922461 SCV002573822 pathogenic Cystic fibrosis 2022-09-05 criteria provided, single submitter curation This variant was identified in 3 unrelated patients with a clinically confirmed diagnosis of cystic fibrosis. The variant was classified in the context of a project re-classifying variants in the German Cystic Fibrosis Registry (Muko.e.V.). Link: https://www.muko.info/angebote/qualitaetsmanagement/register/cf-einrichtungen/mukoweb. Criteria applied: PVS1, PM2_SUP, PM3, PP4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001922461 SCV004037689 pathogenic Cystic fibrosis 2023-08-29 criteria provided, single submitter clinical testing Variant summary: CFTR c.2341C>T (p.Gln781X) 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. The variant was absent in 186868 control chromosomes. c.2341C>T has been reported in the literature in individuals affected with Cystic Fibrosis (eg: Raraigh_2022). The following publication have been ascertained in the context of this evaluation (PMID: 34782259). Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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