Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001044694 | SCV001208502 | pathogenic | Dyskeratosis congenita | 2023-08-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 842299). This premature translational stop signal has been observed in individual(s) with Coats plus syndrome (PMID: 30393977). This variant is present in population databases (rs372031509, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg108*) 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). |