Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586650 | SCV000697046 | likely pathogenic | Cystic fibrosis | 2016-06-21 | criteria provided, single submitter | clinical testing | Variant summary: The CFTR c.811delT (p.Ser271Leufs) variant results in a premature termination codon, predicted to cause a truncated or absent CFTR protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.948delT/p.F316fs). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 104650 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as Likely pathogenic until more evidence becomes available. |
| Ambry Genetics | RCV000586650 | SCV002678930 | pathogenic | Cystic fibrosis | 2015-10-19 | criteria provided, single submitter | clinical testing | The c.811delT pathogenic mutation, located in coding exon 7 of the CFTR gene, results from a deletion of one nucleotide at nucleotide position 811, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts 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). |
| Counsyl | RCV000586650 | SCV001132144 | likely pathogenic | Cystic fibrosis | 2014-06-13 | no assertion criteria provided | clinical testing |