ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.948del (p.Phe316fs) (rs75528968)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007583 SCV000071464 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079016 SCV000331317 pathogenic not provided 2012-11-30 criteria provided, single submitter clinical testing
Counsyl RCV000007583 SCV000485161 pathogenic Cystic fibrosis 2015-11-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000079016 SCV000601138 pathogenic not provided 2016-12-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000007583 SCV000697060 pathogenic Cystic fibrosis 2017-01-24 criteria provided, single submitter clinical testing Variant summary: The CFTR c.948delT (p.Phe316Leufs) variant results in a premature termination codon, predicted to cause a truncated or absent CFTR protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g.c.2353C>T/p.Arg785X, c.2554dupT/p.Tyr852fs). One in silico tool predicts a damaging outcome for this variant. This variant was found in 3/121186 control chromosomes at a frequency of 0.0000248, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). This variant has been reported in numerous CF or CFTR-RD patients. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000079016 SCV000885173 pathogenic not provided 2017-11-30 criteria provided, single submitter clinical testing The CFTR c.948delT, p.Phe316fs variant (rs121908744), also known as 1078delT, has been reported in multiple individuals with the pancreatic insufficient form of cystic fibrosis (Claustres 1992, Ooi 2012, Sosnay 2013, CFTR2 database). It is listed as pathogenic in ClinVar (Variation ID: 7163), and not observed in the general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database). The variant introduces a frameshift, and is predicted to result in a truncated protein or an absent transcript. Based on the above information, the p.Phe316fs variant is classified as pathogenic. References: CFTR2 database: Claustres M et al. A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosis. Genomics. 1992; 13(3):907-8. Ooi C. et al. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis. J Cyst Fibros. 2012; 11(5):355-62. 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 RCV000007583 SCV000886238 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
OMIM RCV000007583 SCV000027784 pathogenic Cystic fibrosis 1993-12-01 no assertion criteria provided literature only

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