Submissions for variant NM_000492.4(CFTR):c.236G>A (p.Trp79Ter)

dbSNP: rs397508371

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CFTR-France	RCV000577054	SCV001169558	pathogenic	Cystic fibrosis	2018-01-29	criteria provided, single submitter	curation
Institute of Human Genetics, University of Leipzig Medical Center	RCV000577054	SCV002574045	pathogenic	Cystic fibrosis	2022-09-05	criteria provided, single submitter	curation	This variant was identified in 1 patient with a clinically confirmed diagnosis of cystic fibrosis. The variant was classified in the context of a project re-classifying variants in the German Cystic Fibrosis Registry (Muko.e.V.). Link: https://www.muko.info/angebote/qualitaetsmanagement/register/cf-einrichtungen/mukoweb. Criteria applied: PVS1, PM3, PM2_SUP
Labcorp Genetics (formerly Invitae), Labcorp	RCV000577054	SCV004295533	pathogenic	Cystic fibrosis	2023-10-12	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Trp79*) 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: 17825628). ClinVar contains an entry for this variant (Variation ID: 53482). For these reasons, this variant has been classified as Pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI)	RCV000577054	SCV000678987	not provided	Cystic fibrosis		no assertion provided	literature only