ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2125C>T (p.Arg709Ter) (rs121908760)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000056359 SCV000071553 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000056359 SCV000485205 pathogenic Cystic fibrosis 2015-11-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000056359 SCV000696887 pathogenic Cystic fibrosis 2017-06-23 criteria provided, single submitter clinical testing Variant summary: The CFTR c.2125C>T (p.Arg709X) 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.3266G>A/p.Trp1089X, c.3276C>A/p.Tyr1092X). One in silico tool predicts a damaging outcome for this variant. This variant was found in 2/119868 control chromosomes at a frequency of 0.0000167, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). This variant has been reported in multiple CF patients. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727640 SCV000854925 pathogenic not provided 2018-05-31 criteria provided, single submitter clinical testing
Mendelics RCV000056359 SCV000886260 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing

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