Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002317989 | SCV000849559 | pathogenic | Inborn genetic diseases | 2017-05-11 | criteria provided, single submitter | clinical testing | The c.768dupC pathogenic mutation, located in coding exon 1 of the PCDH19 gene, results from a duplication of C at nucleotide position 768, causing a translational frameshift with a predicted alternate stop codon (p.V257Rfs*63). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |