Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001215384 | SCV001387124 | pathogenic | Dyskeratosis congenita | 2019-04-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val854Glyfs*26) in the CTC1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CTC1 are known to be pathogenic (PMID: 22267198, 22387016). This variant has not been reported in the literature in individuals with CTC1-related conditions. This variant is not present in population databases (ExAC no frequency). |