ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3484C>T (p.Arg1162Ter) (rs74767530)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
American College of Medical Genetics and Genomics (ACMG) RCV000007557 SCV000071403 pathogenic Cystic fibrosis 2004-03-03 practice guideline curation Converted during submission to Pathogenic.
CFTR2 RCV000007557 SCV000071551 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000007557 SCV000485190 pathogenic Cystic fibrosis 2016-02-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508142 SCV000601102 pathogenic not provided 2017-01-05 criteria provided, single submitter clinical testing
Mendelics RCV000007557 SCV000886180 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780138 SCV000917183 pathogenic not specified 2018-03-14 criteria provided, single submitter clinical testing Variant summary: CFTR c.3484C>T (p.Arg1162X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 5.4e-05 in 276330 control chromosomes. The c.3484C>T variant has been reported in the literature in numerous individuals affected with Cystic Fibrosis and is considered a common pathogenic mutation (see e.g. Sosnay 2013, Gasparini 1991). These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence, which showed the lack of full length CFTR protein and improper localization of the truncated form at the plasma membrane in cells from a homozygous patient (Sorio 2011). Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and all laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000007557 SCV000027758 pathogenic Cystic fibrosis 1992-08-01 no assertion criteria provided literature only

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