Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000422835 | SCV000517285 | pathogenic | not provided | 2015-05-22 | criteria provided, single submitter | clinical testing | The Q183X variant in the TP63 gene has not been reported previously as a pathogenic variantnor as a benign polymorphism, to our knowledge. This variant is predicted to cause loss of normalprotein function either through protein truncation or nonsense-mediated mRNA decay. The Q183Xvariant was not observed in approximately 6500 individuals of European and African Americanancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant inthese populations. While, less common, nonsense variants have been reported in TP63 gene inHGMD associated with Split-Hand/Foot malformation and Limb-Mammary syndrome (Stenson et al.,2014). Thus we interpret the Q183X variant as pathogenic. |