ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.739_742dup (p.Arg248fs) (rs1057517342)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411442 SCV000487133 likely pathogenic Cystic fibrosis 2016-10-11 criteria provided, single submitter clinical testing
Invitae RCV000411442 SCV000954722 pathogenic Cystic fibrosis 2018-11-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg248Ilefs*11) 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 variant has been observed in an individual affected with clinical features of cystic fibrosis (PMID: 15858154). This variant is also known as 874insTACA in the literature. ClinVar contains an entry for this variant (Variation ID: 371527). 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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