ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.4111G>T (p.Glu1371Ter) (rs397508675)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000047076 SCV000245913 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000047076 SCV000220975 likely pathogenic Cystic fibrosis 2014-12-22 criteria provided, single submitter literature only
Integrated Genetics/Laboratory Corporation of America RCV000780149 SCV000917196 pathogenic not specified 2018-04-06 criteria provided, single submitter clinical testing Variant summary: CFTR c.4111G>T (p.Glu1371X) 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 (eg.c.4144C>T/p.Gln1382X). The variant allele was found at a frequency of 4.1e-06 in 246000 control chromosomes. c.4111G>T has been reported in the literature in individuals affected with Cystic Fibrosis. These data indicate that the variant may be associated with disease. 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 and classified the variant as likely pathogenic. CFTR2 database lists variant as a CF-causing variant with 19 patients with this variant in the database. Based on the evidence outlined above, the variant was classified as pathogenic.

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