ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.777del (p.Leu259_Val260insTer)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002284585 SCV002574001 pathogenic Cystic fibrosis 2023-07-26 criteria provided, single submitter curation This variant was classified based on the report of 1 patient with a clinically confirmed diagnosis of cystic fibrosis in the context of re-classifying variants in the German Cystic Fibrosis Registry (Muko e.V.). Patients have not been seen personally, but only reports were evaluated. Criteria applied:PVS1, PM2_SUP, PP4
Ambry Genetics RCV002284585 SCV003911057 pathogenic Cystic fibrosis 2023-01-23 criteria provided, single submitter clinical testing The c.777delT pathogenic mutation (also known as p.V260*), located in coding exon 7 of the CFTR gene, results from a deletion of one nucleotide at nucleotide position 777. This changes the amino acid from a valine to a stop codon within coding exon 7. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Baylor Genetics RCV004572122 SCV005057433 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2024-02-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005032220 SCV005673296 likely pathogenic Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 2024-01-08 criteria provided, single submitter clinical testing

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