Submissions for variant NM_000492.3(CFTR):c.2909delG

dbSNP: rs397508458

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000985686	SCV001134132	pathogenic	not provided	2018-10-30	criteria provided, single submitter	clinical testing	The variant results in a shift of the reading frame, and is therefore predicted to significantly disrupt the protein structure. Found in at least one symptomatic patient, and not found in general population data.
Johns Hopkins Genomics, Johns Hopkins University	RCV000576989	SCV001167226	pathogenic	Cystic fibrosis	2019-10-04	criteria provided, single submitter	clinical testing	This frameshift variant was previously identified in a patient with cystic fibrosis. It results in a premature stop codon in exon 18 (legacy exon 16) likely leading to nonsense-mediated decay and lack of protein production. In addition, this variant affects the first nucleotide of exon 18 and bioinformatic analysis predicts that it may affect normal exon 18 splicing, althougth this has not been confirmed experimentally to our knowledge. This CFTR variant is absent from large population datasets and a single submitter reports this variant in ClinVar, however, no classification is provided. We consider this variant to be pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI)	RCV000576989	SCV000679417	not provided	Cystic fibrosis		no assertion provided	literature only