Submissions for variant NM_000492.4(CFTR):c.263T>A (p.Leu88Ter)

dbSNP: rs397508412

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CFTR2	RCV000576641	SCV000677617	pathogenic	Cystic fibrosis	2017-03-17	reviewed by expert panel	research
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV000576641	SCV002507358	pathogenic	Cystic fibrosis	2020-07-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000576641	SCV003440210	pathogenic	Cystic fibrosis	2021-12-16	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Leu88*) 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 (gnomAD no frequency). This premature translational stop signal has been observed in individuals with cystic fibrosis (PMID: 1284542, 18955805, 23302613). ClinVar contains an entry for this variant (Variation ID: 53532).
Fulgent Genetics, Fulgent Genetics	RCV005042137	SCV005666788	pathogenic	Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation	2023-12-30	criteria provided, single submitter	clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI)	RCV000576641	SCV000679008	not provided	Cystic fibrosis		no assertion provided	literature only
Natera, Inc.	RCV001826643	SCV002080100	pathogenic	CFTR-related disorder	2017-03-17	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001826643	SCV002507442	pathogenic	CFTR-related disorder	2020-07-30	no assertion criteria provided	clinical testing