Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000986024 | SCV001134822 | pathogenic | not provided | 2019-06-04 | criteria provided, single submitter | clinical testing | The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data. |
Ambry Genetics | RCV002400160 | SCV002709879 | pathogenic | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2019-07-16 | criteria provided, single submitter | clinical testing | The c.1045dupA pathogenic mutation, located in coding exon 8 of the SMAD4 gene, results from a duplication of A at nucleotide position 1045, causing a translational frameshift with a predicted alternate stop codon (p.T349Nfs*3). 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. |