ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2089dup (p.Arg697fs)

dbSNP: rs397508341
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR-France RCV001009461 SCV001169539 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV001009461 SCV003440162 pathogenic Cystic fibrosis 2023-02-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 53439). This premature translational stop signal has been observed in individual(s) with cystic fibrosis (PMID: 18955805). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg697Lysfs*33) in the CFTR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922).
Baylor Genetics RCV003473475 SCV004213462 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-07-15 criteria provided, single submitter clinical testing

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