ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2805_2810delinsTCAGA (p.Pro936fs)

dbSNP: rs1554391033
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000505973 SCV000601080 likely pathogenic not provided 2016-01-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004487 SCV001163532 likely pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
CFTR-France RCV001009453 SCV001169525 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Invitae RCV001009453 SCV001422236 pathogenic Cystic fibrosis 2019-05-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). This variant has not been reported in the literature in individuals with CFTR-related conditions. ClinVar contains an entry for this variant (Variation ID: 439069). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro936Glnfs*6) in the CFTR gene. It is expected to result in an absent or disrupted protein product.
Institute of Human Genetics, University of Leipzig Medical Center RCV001009453 SCV002573995 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, PM3, PM2_SUP, PP4

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