ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.4272C>G (p.Tyr1424Ter) (rs1800135)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410428 SCV000486909 likely pathogenic Cystic fibrosis 2016-09-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781255 SCV000919164 likely pathogenic not specified 2018-11-05 criteria provided, single submitter clinical testing Variant summary: CFTR c.4272C>G (p.Tyr1424X) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g., p.Ser1455X and p.Gln1476X). The variant was absent in 245554 control chromosomes. c.4272C>G has been reported in the literature in individuals with deltaF508 on the alternate allele and were affected with mild Cystic Fibrosis and pancreatic sufficiency, suggesting the variant is a mild causative mutation. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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