ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) (rs113857788)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000586028 SCV000075079 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000007659 SCV000267254 uncertain significance Cystic fibrosis 2016-03-18 criteria provided, single submitter reference population
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000586028 SCV000331812 uncertain significance not provided 2017-11-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000007659 SCV000466528 likely benign Cystic fibrosis 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000664322 SCV000603061 pathogenic Hereditary pancreatitis 2018-05-15 criteria provided, single submitter clinical testing The CFTR c.4056G>C, p.Gln1352His variant (rs113857788) has been reported in multiple individuals diagnosed with CFTR-related disorders, such as congenital bilateral absence of vas deferens (Anzai 2003, Danziger 2004, Steiner 2011, Li 2012) and pancreatitis (Lee 2003, Keiles 2006), and found in-trans with pathogenic CFTR variants. It has also been observed at a higher frequency in Asian pancreatitis patients compared to unaffected individuals (Lee 2003, Fujiki 2004). Expression of the variant protein in a cell line reveals a significant reduction in mature CFTR protein detected compared to wildtype (Lee 2003). The variant is listed in ClinVar (Variation ID: 7237), and observed in the general population database at a frequency of 0.1 percent in the Genome Aggregation Database (265/276934 alleles, 4 homozygtes). The glutamine at residue 1352 is highly conserved and computational algorithms (PolyPhen-2, SIFT) predict that the variant is deleterious. Based on the above information, the variant is classified as mildly pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000586028 SCV000696997 uncertain significance not provided 2017-08-22 criteria provided, single submitter clinical testing
Mendelics RCV000007659 SCV001137498 uncertain significance Cystic fibrosis 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000007659 SCV000027860 pathogenic Cystic fibrosis 2003-09-15 no assertion criteria provided literature only

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