ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1418del (p.Gly473fs) (rs397508205)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000046300 SCV000245878 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000046300 SCV000486133 pathogenic Cystic fibrosis 2016-04-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507504 SCV000601044 pathogenic not provided 2017-04-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000046300 SCV000696843 pathogenic Cystic fibrosis 2016-10-27 criteria provided, single submitter clinical testing Variant summary: The CFTR c.1418delG (p.Gly473Glufs) variant results in a premature termination codon, predicted to cause a truncated or absent CFTR 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.Ser489X, p.Gln493X, p.Glu514X). One in silico tool predicts a damaging outcome for this variant. This variant is absent from 121306 control chromosomes and has been reported in numerous affected individuals in the literature, and is specifically noted as being a common disease causing mutation in the Arab population. In addition, the CFTR2 database has classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.

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