ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.325_327delinsG (p.Tyr109fs) (rs121908798)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000056378 SCV000071487 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001246 SCV001158413 pathogenic not specified 2019-05-07 criteria provided, single submitter clinical testing The c.325_327delinsG, p.Tyr109fs variant (rs121908798), also known as 457TAT->G, is reported in the literature in individuals affected with pancreatic insufficient cystic fibrosis (Ravnik-Glavac 1993, Sosnay 2013). This variant is reported in ClinVar (Variation ID: 53696), and is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting three nucleotides and inserting a single different nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: Ravnik-Glavic M et al. Single-stranded conformation polymorphism analysis of the CFTR gene in Slovenian cystic fibrosis patients: detection of mutations and sequence variations. Hum Mutat. 1993 2(4):286-92. Sosnay PR et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet. 2013 45(10):1160-7.
CFTR-France RCV000056378 SCV001169271 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation

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