ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3744del (p.Lys1250fs) (rs121908784)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007653 SCV000071481 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000007653 SCV000485266 pathogenic Cystic fibrosis 2015-11-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755920 SCV000883588 pathogenic not provided 2018-05-18 criteria provided, single submitter clinical testing The CFTR c.3744delA; p.Lys1250fs variant (rs121908784), also known as 3876delA for traditional nomenclature, is reported in multiple individuals with pancreatic insufficient cystic fibrosis who carry an additional severe pathogenic variant in trans (CFTR2 database, Sosnay 2013, Wang 2000). This variant is reported as pathogenic in ClinVar (Variation ID: 7231), and found in the general Latino population with an allele frequency of 0.009% (3/33540 alleles) in the Genome Aggregation Database. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be severely pathogenic. REFERENCES CFTR2 database: Sosnay PR et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet. 2013 Oct;45(10):1160-7. Wang J et al. A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients. J Med Genet. 2000 Mar;37(3):215-8.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000755920 SCV000888090 pathogenic not provided 2015-08-19 criteria provided, single submitter clinical testing
OMIM RCV000007653 SCV000027854 pathogenic Cystic fibrosis 2000-03-01 no assertion criteria provided literature only

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