ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1986_1989del (p.Thr663fs) (rs397508325)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000046515 SCV000245901 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000046515 SCV000485882 pathogenic Cystic fibrosis 2016-02-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001298 SCV001158478 pathogenic not specified 2019-05-16 criteria provided, single submitter clinical testing The CFTR c.1986_1989delAACT; p.Thr663fs variant (rs397508325), also known as 2118del4, is reported in the literature in the compound heterozygous state in individuals affected with cystic fibrosis (UMD-CFTR mutation database, Chevalier-Porst 1993). This variant is reported as pathogenic by multiple laboratories in ClinVar (Variation ID: 53421), 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 4 nucleotides, 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: Link to UMD-CFTR mutation database: Chevalier-Porst F et al. Identification of three rare frameshift mutations in exon 13 of the cystic fibrosis gene: 1918delGC, 2118del4 and 2372del8. Hum Mol Genet. 1993 Jul;2(7):1071-2.
CFTR-France RCV000046515 SCV001169417 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation

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