ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.51del (p.Phe17fs) (rs1317756653)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757087 SCV000885192 pathogenic not provided 2017-11-14 criteria provided, single submitter clinical testing
Mendelics RCV000757847 SCV000886342 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Invitae RCV000757847 SCV001212185 pathogenic Cystic fibrosis 2019-02-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe17Leufs*8) in the CFTR gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This nonsense change has been observed in individuals affected with cystic fibrosis (PMID: 26708955). 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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