Submissions for variant NM_000492.4(CFTR):c.2463_2464del (p.Ser821fs)

dbSNP: rs797045156

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CFTR2	RCV000551959	SCV000245879	pathogenic	Cystic fibrosis	2017-03-17	reviewed by expert panel	research
Labcorp Genetics (formerly Invitae), Labcorp	RCV000551959	SCV000625735	pathogenic	Cystic fibrosis	2024-10-28	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Ser821Argfs*4) 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 individual(s) with cystic fibrosis (PMID: 12000363). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 455767). For these reasons, this variant has been classified as Pathogenic.
Counsyl	RCV000551959	SCV001132363	pathogenic	Cystic fibrosis	2017-11-08	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001834714	SCV002080749	pathogenic	CFTR-related disorder	2017-03-17	no assertion criteria provided	clinical testing