ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.647G>A (p.Trp216Ter) (rs397508775)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000576668 SCV000677626 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Integrated Genetics/Laboratory Corporation of America RCV000780125 SCV000917169 pathogenic not specified 2018-09-17 criteria provided, single submitter clinical testing Variant summary: CFTR c.647G>A (p.Trp216X) 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 allele was found at a frequency of 4.1e-06 in 246204 control chromosomes (gnomAD and publication). The variant, c.647G>A, has been reported in the literature in multiple individuals affected with Non-classic Cystic Fibrosis, including one homozygote (Anzai_2003, Clain_2005, Claustres_2000, Kammesheidt_2006, Shen_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. A ClinVar submission (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000576668 SCV000679176 not provided Cystic fibrosis no assertion provided literature only

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