Submissions for variant NM_000492.4(CFTR):c.2472del (p.Asn825fs)

dbSNP: rs397508380

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000577810	SCV001584604	pathogenic	Cystic fibrosis	2020-11-14	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with cystic fibrosis (PMID: 7687986). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as CF2603/4delT in the literature. ClinVar contains an entry for this variant (Variation ID: 53494). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn825Thrfs*5) 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).
Ambry Genetics	RCV000577810	SCV002734589	pathogenic	Cystic fibrosis	2020-02-14	criteria provided, single submitter	clinical testing	The c.2472delT pathogenic mutation, located in coding exon 14 of the CFTR gene, results from a deletion of one nucleotide at nucleotide position 2472, causing a translational frameshift with a predicted alternate stop codon (p.N825Tfs*5). 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.
Fulgent Genetics, Fulgent Genetics	RCV002477155	SCV002782839	pathogenic	Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation	2022-02-09	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003473486	SCV004213555	pathogenic	Bronchiectasis with or without elevated sweat chloride 1	2023-02-26	criteria provided, single submitter	clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI)	RCV000577810	SCV000678989	not provided	Cystic fibrosis		no assertion provided	literature only
Natera, Inc.	RCV001826637	SCV002080752	pathogenic	CFTR-related disorder	2017-03-17	no assertion criteria provided	clinical testing