Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599033 | SCV000710294 | pathogenic | not provided | 2018-01-02 | criteria provided, single submitter | clinical testing | The c.1107delC variant in the SOX10 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1107delC variant causes a frameshift, changing codon Tyrosine 369 to a premature Stop codon, denoted p.Tyr369Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1107delC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1107delC as a pathogenic variant. |
Center for Human Genetics, |
RCV000660287 | SCV000782312 | likely pathogenic | Waardenburg syndrome type 4C | 2016-11-01 | criteria provided, single submitter | clinical testing |