ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.889C>T (p.Arg297Trp) (rs397508814)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000577784 SCV000788779 uncertain significance Cystic fibrosis 2016-12-15 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781243 SCV000919149 uncertain significance not specified 2018-10-30 criteria provided, single submitter clinical testing Variant summary: CFTR c.889C>T (p.Arg297Trp) results in a non-conservative amino acid change located in the ABC transporter type 1, transmembrane domain (IPR011527) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.9e-05 in 245282 control chromosomes (gnomAD). This frequency is not higher than expected for a pathogenic variant in CFTR causing Non-classic Cystic Fibrosis (4.9e-05 vs 0.013), allowing no conclusion about variant significance. c.889C>T has been reported in the literature in individuals affected with CBAVD and chronic pancreatitis without strong evidence for causality (Dork 1997, Sultan 2012). 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 uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577784 SCV000679511 not provided Cystic fibrosis no assertion provided literature only

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