Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV001264357 | SCV001442461 | likely pathogenic | Cystic fibrosis | 2019-04-08 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001264357 | SCV002573928 | likely pathogenic | Cystic fibrosis | 2022-09-05 | criteria provided, single submitter | curation | This variant was identified in 2 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, PM2_SUP |
Ambry Genetics | RCV001264357 | SCV002705072 | pathogenic | Cystic fibrosis | 2015-02-06 | criteria provided, single submitter | clinical testing | The p.E514* pathogenic mutation (also known as c.1540G>T), located in coding exon 11 of the CFTR gene, results from a G to T substitution at nucleotide position 1540. This changes the amino acid from a glutamic acid to a stop codon within coding exon 11. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |