ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.234dup (p.Trp79fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV001192431 SCV001360545 likely pathogenic Cystic fibrosis 2019-05-03 criteria provided, single submitter clinical testing Variant summary: CFTR c.234dupC (p.Trp79LeufsX32) 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. c.262_263delTT (p.Leu88fsX22), c.303dupA (p.Leu102fsX9)). The variant allele was found at a frequency of 8e-06 in 251016 control chromosomes (gnomAD). c.234dupC have been reported in the literature in an individual affected with Cystic Fibrosis (Schrijver_2016). 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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