ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1340del (p.Lys447fs) (rs397508192)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000046278 SCV000245888 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000046278 SCV000486001 pathogenic Cystic fibrosis 2016-03-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000046278 SCV000696835 pathogenic Cystic fibrosis 2016-01-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001369 SCV001158567 pathogenic not specified 2019-06-19 criteria provided, single submitter clinical testing The CFTR c.1340delA; p.Lys447fs variant (rs397508192) is reported in the literature in multiple individuals affected with cystic fibrosis (Mott 2009, CFTR2 database). At least one affected individual with this variant was observed to carry a second pathogenic CFTR variant (Mott 2009). This variant is found on a single chromosome (1/242968 alleles) in the Genome Aggregation Database, indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single 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: CFTR2 database: Mott LS et al. Bronchiectasis in an asymptomatic infant with cystic fibrosis diagnosed following newborn screening. J Cyst Fibros. 2009 Jul;8(4):285-7.
Baylor Genetics RCV001004445 SCV001163490 pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
Johns Hopkins Genomics,Johns Hopkins University RCV000046278 SCV001433655 pathogenic Cystic fibrosis 2019-12-17 criteria provided, single submitter clinical testing Previously reported disease-causing CFTR variant. See for phenotype information.

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