ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.531dup (p.Gly178fs) (rs121908771)

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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 RCV000589412 SCV000697033 likely pathogenic Cystic fibrosis 2017-07-03 criteria provided, single submitter clinical testing Variant summary: The CFTR c.531dupT (p.Gly178Trpfs) 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.Leu671X, p.Arg709X, p.Glu831X etc.). This variant is absent in 119504 control chromosomes from ExAC. This variant has been reported in one neonate with CF in the compound heterozygous state with p.Phe508del (Simakova_2016; early publication; link: http://www.biorxiv.org/content/biorxiv/early/2016/04/26/050419.full.pdf). The variant has also been reported in a Maldovan CF patient (Scuica_Revista de tiine ale Sntii din Moldova_2015). Taken together, this variant is classified as likely pathogenic.
CFTR-France RCV000589412 SCV001169311 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation

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