ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.303dup (p.Leu102fs) (rs397508486)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781238 SCV000919143 pathogenic not specified 2018-02-05 criteria provided, single submitter clinical testing Variant summary: CFTR c.303dupA (p.Leu102ThrfsX9) 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.803delA/ p.Asn268fsX17, c.825C>G/ p.Tyr275X, c.828C>A/ p.Cys276X, etc). The variant allele was found at a frequency of 4e-06 in 247162 control chromosomes. The c.303dupA variant has been reported in the literature in individuals affected with Cystic Fibrosis. These data indicate that the variant is likely to 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. Based on the evidence outlined above, the variant was classified as pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000576952 SCV000679021 not provided Cystic fibrosis no assertion provided literature only

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