ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2083dup (p.Glu695fs) (rs397508339)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507543 SCV000601067 pathogenic not provided 2016-11-03 criteria provided, single submitter clinical testing
Invitae RCV000801495 SCV000941272 pathogenic Cystic fibrosis 2018-10-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu695Glyfs*35) in the CFTR gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs781715088, ExAC 0.02%). This variant has been observed in several individuals affected with cystic fibrosis (PMID: 10925568, 12874665). This variant is also known as 2215insG. ClinVar contains an entry for this variant (Variation ID: 53437). Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). For these reasons, this variant has been classified as Pathogenic.

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