Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000483964 | SCV000572433 | pathogenic | not provided | 2016-12-06 | criteria provided, single submitter | clinical testing | The c.141delG variant in the SOX10 gene has has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.141delG variant causes a frameshift starting with codon Proline 48, changes this amino acid to a Glutamine residue, and creates a premature Stop codon at position 61 of the new reading frame, denoted p.Pro48GlnfsX61. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.141delG 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. We interpret c.141delG as a pathogenic variant |
Center for Human Genetics, |
RCV000660273 | SCV000782298 | likely pathogenic | Waardenburg syndrome type 4C | 2016-11-01 | criteria provided, single submitter | clinical testing |