ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1519_1521delATC (rs121908745)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
American College of Medical Genetics and Genomics (ACMG) RCV000007525 SCV000071391 pathogenic Cystic fibrosis 2004-03-03 practice guideline curation Converted during submission to Pathogenic.
CFTR2 RCV000007525 SCV000071494 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224705 SCV000280992 pathogenic not provided 2014-11-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000224705 SCV000331551 pathogenic not provided 2014-05-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000224705 SCV000883579 pathogenic not provided 2018-01-15 criteria provided, single submitter clinical testing The CFTR p.Ile507del (I507del) variant has been reported in multiple cystic fibrosis patients, and is associated with pancreatic insufficiency (Sosnay 2013, CFTR2 database). This variant is considered to cause severe cystic fibrosis when identified with another severe pathogenic variant on the opposite chromosomes. CFTR2 database: http://cftr2.org/ Sosnay PR et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet. 2013; 45(10):1160-7
Mendelics RCV000007525 SCV000886198 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000224705 SCV000889287 pathogenic not provided 2018-09-13 criteria provided, single submitter clinical testing The best available variant frequency is uninformative. Found in at least one symptomatic patient. Occurs in multiple cases with a recessive pathogenic variant in the same gene. Assessment of experimental evidence suggests this variant results in abnormal protein function.
Integrated Genetics/Laboratory Corporation of America RCV000780118 SCV000917162 pathogenic not specified 2017-10-30 criteria provided, single submitter clinical testing Variant summary: The CFTR c.1519_1521delATC (p.Ile507del) variant involves the deletion of three nucleotides, leading to an in-frame deletion of a isoleucine residue in the ABC transporter-like and AAA+ ATPase domains (InterPro). One in silico tool predicts a damaging outcome for this variant. This variant was found in 10/276978 control chromosomes at a frequency of 0.0000361, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). The variant has been identified in many CF patients and is considered a common variant, as it was found in 1.6% of CF alleles in a large, nationwide retrospective study (McKone_2003). Patients with this variant have a mean chloride conductance of 0.2% as of the WT CFTR (Sosnay_2013). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
OMIM RCV000007525 SCV000027726 pathogenic Cystic fibrosis 1994-06-01 no assertion criteria provided literature only
Counsyl RCV000007525 SCV000678187 pathogenic Cystic fibrosis 2015-04-15 no assertion criteria provided clinical testing

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