ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.715G>A (p.Gly239Arg) (rs397508788)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000594254 SCV000704648 uncertain significance not provided 2017-08-15 criteria provided, single submitter clinical testing
Counsyl RCV000577623 SCV000792807 uncertain significance Cystic fibrosis 2017-07-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000072 SCV000885174 uncertain significance not specified 2018-10-27 criteria provided, single submitter clinical testing The CFTR c.715G>A; p.Gly239Arg variant (rs397508788) has been reported in individuals affected with mild cystic fibrosis and pancreatic sufficiency (Bienvenu 1995, Gilljam 2004, SickKids CFTR database) and one individual with symptomatic diffuse bronchiectasis (Puechal 1999). This variant is reported in ClinVar (Variation ID: 54046), and is found in the general population with an overall allele frequency of 0.007% (21/282,796 alleles) in the Genome Aggregation Database. The glycine at codon 239 is weakly conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Gly239Arg variant is uncertain at this time. References: SickKids CFTR database: Bienvenu T et al. Identification of a novel missense mutation G239R in exon 6a of the CFTR gene. Hum Hered. 1995; 45(1):53-4. Gilljam M et al. Clinical manifestations of cystic fibrosis among patients with diagnosis in adulthood. Chest. 2004 Oct;126(4):1215-24. Puechal X et al. Increased frequency of cystic fibrosis deltaF508 mutation in bronchiectasis associated with rheumatoid arthritis. Eur Respir J. 1999 Jun;13(6):1281-7.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000594254 SCV001134151 uncertain significance not provided 2018-11-29 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577623 SCV000679479 not provided Cystic fibrosis no assertion provided literature only

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