ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3622_3623delinsT (p.Gly1208fs)

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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 RCV002999563 SCV003297468 pathogenic Cystic fibrosis 2022-01-15 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 affected with CFTR-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change creates a premature translational stop signal (p.Gly1208Serfs*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 RCV003465886 SCV004215210 likely pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-01-19 criteria provided, single submitter clinical testing

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