Submissions for variant NM_000492.4(CFTR):c.498del (p.Lys166fs)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Human Genetics, University of Leipzig Medical Center	RCV002284579	SCV002573978	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	RCV002284579	SCV002642285	pathogenic	Cystic fibrosis	2018-02-08	criteria provided, single submitter	clinical testing	The c.498delG pathogenic mutation, located in coding exon 5 of the CFTR gene, results from a deletion of one nucleotide at nucleotide position 498, causing a translational frameshift with a predicted alternate stop codon (p.K166Nfs*7). 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.
Baylor Genetics	RCV004572121	SCV005057461	likely pathogenic	Bronchiectasis with or without elevated sweat chloride 1	2023-12-26	criteria provided, single submitter	clinical testing