ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.743+1G>A

dbSNP: rs397508791
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000347077 SCV000343718 pathogenic not provided 2016-07-06 criteria provided, single submitter clinical testing
Mendelics RCV000047246 SCV000886272 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000047246 SCV002573892 pathogenic Cystic fibrosis 2022-09-05 criteria provided, single submitter curation This variant was identified in 1 patient 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, PS1_SUP, PS3_SUP, PM2_SUP, PM3, PP4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000047246 SCV004020687 pathogenic Cystic fibrosis 2023-06-12 criteria provided, single submitter clinical testing Variant summary: CFTR c.743+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. 3/3 computational tools predict the variant has a significant impact on normal splicing by abolishing the canonical 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251316 control chromosomes (gnomAD). c.743+1G>A has been reported in the literature in individuals affected with Cystic Fibrosis (e.g. Casals_1997, Spinelli_2009, Trujillano_2013, Nunes_2017) and in a CF patient in the SickKids CF mutation database (pers. corr.Duarte 1994). These data indicate that the variant is likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 9439669, 28771972, 19481507, 23687349). Three submitters have provided clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics RCV003474616 SCV004213291 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-10-18 criteria provided, single submitter clinical testing

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