Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000704293 | SCV000833236 | pathogenic | Dyskeratosis congenita | 2023-07-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CTC1-related conditions. This variant is present in population databases (rs767991627, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Gln93*) in the CTC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CTC1 are known to be pathogenic (PMID: 22267198, 22387016). ClinVar contains an entry for this variant (Variation ID: 580679). |