Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000699564 | SCV000828280 | pathogenic | Dyskeratosis congenita | 2022-12-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg396*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 576930). This premature translational stop signal has been observed in individual(s) with clinical features of dyskeratosis congenita (Invitae). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. |