Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000578699 | SCV000681254 | likely pathogenic | not provided | 2017-12-12 | criteria provided, single submitter | clinical testing | The R726X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R726X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |
Invitae | RCV000578699 | SCV004449776 | pathogenic | not provided | 2023-09-10 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs754855261, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg726*) in the CC2D1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CC2D1A are known to be pathogenic (PMID: 16033914). This variant has not been reported in the literature in individuals affected with CC2D1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 489260). For these reasons, this variant has been classified as Pathogenic. |