ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1261dup (p.Thr421fs)

dbSNP: rs2115903081
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001951073 SCV002238162 pathogenic Cystic fibrosis 2021-06-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with CFTR-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr421Asnfs*3) 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 RCV003475230 SCV004213410 likely pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-09-02 criteria provided, single submitter clinical testing

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