Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV002284578 | SCV002573977 | likely pathogenic | Cystic fibrosis | 2022-09-05 | criteria provided, single submitter | curation | This variant was identified in 1 patient 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, PM2_SUP |
Ambry Genetics | RCV002284578 | SCV002634598 | pathogenic | Cystic fibrosis | 2017-05-04 | criteria provided, single submitter | clinical testing | The c.49_50delTT pathogenic mutation, located in coding exon 1 of the CFTR gene, results from a deletion of two nucleotides at nucleotide positions 49 to 50, causing a translational frameshift with a predicted alternate stop codon (p.Phe17Glnfs*27). 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. |