Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003656762 | SCV001417918 | pathogenic | not provided | 2019-12-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TPP1 are known to be pathogenic (PMID: 10330339). This variant has not been reported in the literature in individuals with TPP1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala363Phefs*40) in the TPP1 gene. It is expected to result in an absent or disrupted protein product. |