ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2859_2890del (p.Leu953fs)

dbSNP: rs397508445
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000046704 SCV000245945 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Mendelics RCV000046704 SCV000886233 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000046704 SCV002194315 pathogenic Cystic fibrosis 2022-05-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu953Phefs*11) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 53581). This premature translational stop signal has been observed in individual(s) with cystic fibrosis (PMID: 7519167). This variant is present in population databases (rs397508445, gnomAD 0.0009%).
Institute of Human Genetics, University of Leipzig Medical Center RCV000046704 SCV002574064 pathogenic Cystic fibrosis 2022-09-05 criteria provided, single submitter curation This variant was identified in 6 unrelated patients with a clinically confirmed diagnosis of cystic fibrosis. The variant was classified in the context of a project re-classifying variants in the German Cystic Fibrosis Registry (Muko.e.V.). Link: https://www.muko.info/angebote/qualitaetsmanagement/register/cf-einrichtungen/mukoweb. Criteria applied: PVS1, PS3_SUP, PM2_SUP, PM3_STR, PP4
Ambry Genetics RCV000046704 SCV002752768 pathogenic Cystic fibrosis 2022-06-15 criteria provided, single submitter clinical testing The c.2859_2890del32 pathogenic mutation, located in coding exon 17 of the CFTR gene, results from a deletion of 32 nucleotides at nucleotide positions 2859 to 2890, causing a translational frameshift with a predicted alternate stop codon (p.L953Ffs*11). 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.
Natera, Inc. RCV001826649 SCV002083552 pathogenic CFTR-related disorder 2020-08-10 no assertion criteria provided clinical testing

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