ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.292C>T (p.Gln98Ter) (rs397508461)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000056375 SCV000071549 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000056375 SCV000220660 likely pathogenic Cystic fibrosis 2014-08-29 criteria provided, single submitter literature only
Mendelics RCV000056375 SCV000886257 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781254 SCV000919163 pathogenic not specified 2018-12-24 criteria provided, single submitter clinical testing Variant summary: CFTR c.292C>T (p.Gln98X) 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 1.1e-05 in 276762 control chromosomes (gnomAD). c.292C>T has been reported in the literature in multiple individuals affected with Cystic Fibrosis, including a report of homozygous occurrences (Sosnay_2013, Wong_2004, Malone_1998). These data indicate that the variant is very likely to be associated with disease. The variant is also reported in 17 patients in the reputable CFTR2 database where it is mentioned that it "causes CF when combined with another CF-causing variant" and it also "causes pancreatic insufficiency when combined with another variant that causes pancreatic insufficiency." Based on the evidence outlined above, the variant was classified as pathogenic.

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