ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.263T>G (p.Leu88Ter) (rs397508412)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000046644 SCV000677618 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000046644 SCV000486032 likely pathogenic Cystic fibrosis 2016-03-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781278 SCV000919191 pathogenic not specified 2018-05-25 criteria provided, single submitter clinical testing Variant summary: CFTR c.263T>G (p.Leu88X) 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 was absent in 245518 control chromosomes. c.263T>G has been reported in the literature in multiple individuals affected with Cystic Fibrosis (Savov 1995, Ko 2008, Tian 2016). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as pathogenic and likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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