Submissions for variant NM_000492.4(CFTR):c.575A>G (p.Asp192Gly)

dbSNP: rs397508758

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CFTR2	RCV000577568	SCV001981552	pathogenic	Cystic fibrosis	2020-07-31	reviewed by expert panel	research
Ambry Genetics	RCV000577568	SCV005035832	likely pathogenic	Cystic fibrosis	2023-12-06	criteria provided, single submitter	clinical testing	The p.D192G variant (also known as c.575A>G), located in coding exon 5 of the CFTR gene, results from an A to G substitution at nucleotide position 575. The aspartic acid at codon 192 is replaced by glycine, an amino acid with similar properties. This variant has been identified in the homozygous state in an individual diagnosed with cystic fibrosis (Alibakhshi R et al. J Cyst Fibros, 2008 Mar;7:102-9). This alteration has also been identified in the compound heterozygous state in multiple individuals diagnosed with cystic fibrosis (Behar DM et al. Mol Genet Genomic Med, 2017 May;5:223-236; Esposito MV et al. J Clin Med, 2020 Nov;9:). This variant has <10% of wild type function in The Clinical and Functional TRanslation of CFTR (CFTR2) database (available at http://cftr2.org. Accessed 12/05/2023). In another functional study, this alteration impaired CFTR function (Seibert FS et al. Biochemistry, 1997 Sep;36:11966-74). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV005031527	SCV005673286	pathogenic	Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation	2024-05-14	criteria provided, single submitter	clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI)	RCV000577568	SCV000679473	not provided	Cystic fibrosis		no assertion provided	literature only
Counsyl	RCV000577568	SCV000788942	likely pathogenic	Cystic fibrosis	2017-01-05	no assertion criteria provided	clinical testing	This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact [e-mail].