Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000486502 | SCV000572797 | pathogenic | not provided | 2017-01-24 | criteria provided, single submitter | clinical testing | This variant is denoted PTCH1 c.489_490insTA at the cDNA level and p.Glu164Ter (E164X) at the protein level. This insertion creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAA>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic. |