ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3546del (p.Pro1181_Tyr1182insTer)

dbSNP: rs1792671655
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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 RCV001215372 SCV001387112 pathogenic Cystic fibrosis 2019-07-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). This nonsense change has been observed in an individual affected with cystic fibrosis (PMID: 30444886). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr1182*) in the CFTR gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV003473765 SCV004213505 likely pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-05-16 criteria provided, single submitter clinical testing

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