Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599425 | SCV000710155 | pathogenic | not provided | 2017-11-17 | criteria provided, single submitter | clinical testing | The c.6508dupC variant in the NOTCH3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.6508dupC variant causes a frameshift starting with codon Leucine 2170, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 72 of the new reading frame, denoted p.Leu2170ProfsX72. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 152 amino acids are lost and replaced with 71 incorrect amino acids. Furthermore, the c.6508dupC variant is not observed in large population cohorts (Lek et al., 2016). |