Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000485617 | SCV000568898 | likely pathogenic | not provided | 2015-12-15 | criteria provided, single submitter | clinical testing | The c.5926dupC variant in the NOTCH3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.5926dupC variant causes a frameshift starting with codon Leucine 1976, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Leu1976ProfsX11. This variant is predicted to cause loss of normal protein function through protein truncation. The c.5926dupC variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.5926dupC variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded. |