Submissions for variant NM_000492.4(CFTR):c.2440C>T (p.Gln814Ter)

dbSNP: rs397508377

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000576941	SCV001580684	pathogenic	Cystic fibrosis	2019-06-05	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 been observed in individuals affected with cystic fibrosis (PMID: 12865275). ClinVar contains an entry for this variant (Variation ID: 53490). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln814*) in the CFTR gene. It is expected to result in an absent or disrupted protein product.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV000576941	SCV002507321	pathogenic	Cystic fibrosis	2019-07-23	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV004566872	SCV005057480	pathogenic	Bronchiectasis with or without elevated sweat chloride 1	2023-11-09	criteria provided, single submitter	clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI)	RCV000576941	SCV000679352	not provided	Cystic fibrosis		no assertion provided	literature only
Natera, Inc.	RCV001831749	SCV002080746	pathogenic	CFTR-related disorder	2017-03-17	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001831749	SCV002507405	pathogenic	CFTR-related disorder	2019-07-23	no assertion criteria provided	clinical testing