ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1753G>T (p.Glu585Ter) (rs397508296)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000056353 SCV000071534 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000056353 SCV000220495 pathogenic Cystic fibrosis 2014-07-09 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724156 SCV000331671 pathogenic not provided 2017-08-07 criteria provided, single submitter clinical testing
Mendelics RCV000056353 SCV000886253 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781242 SCV000919148 pathogenic not specified 2017-10-12 criteria provided, single submitter clinical testing Variant summary: The CFTR c.1753G>T (p.Glu585X) 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. This variant was found in 5/244858 control chromosomes at a frequency of 0.0000204 (gnomAD), which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). The variant of interest has been reported in multiple affected individuals (Sosnay 2013). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.

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