Submissions for variant NM_000492.4(CFTR):c.3322del (p.Val1108fs)

dbSNP: rs2116085331

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001920657	SCV002186350	pathogenic	Cystic fibrosis	2021-01-13	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Val1108Serfs*13) 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). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CFTR-related conditions. For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center	RCV001920657	SCV002574089	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, PM2_SUP, PP4
Ambry Genetics	RCV001920657	SCV002607294	pathogenic	Cystic fibrosis	2018-08-02	criteria provided, single submitter	clinical testing	The c.3322delG pathogenic mutation, located in coding exon 20 of the CFTR gene, results from a deletion of one nucleotide at nucleotide position 3322, causing a translational frameshift with a predicted alternate stop codon (p.V1108Sfs*13). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.