Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002315124 | SCV000739492 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-07-25 | criteria provided, single submitter | clinical testing | The p.Q2480* variant (also known as c.7438C>T), located in coding exon 34 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 7438. This changes the amino acid from a glutamine to a stop codon within coding exon 34. Premature stop codons are typically deleterious in nature, however, this stop codon occurs at the 3' terminus of NOTCH1, is not expected to trigger nonsense-mediated mRNA decay, and impacts only the last 76 amino acids of the protein. The exact functional impact of these removed amino acids is unknown at this time. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |