Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001196171 | SCV001366706 | likely pathogenic | Seckel syndrome 1 | 2019-10-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2. |
Ce |
RCV001815508 | SCV002062509 | uncertain significance | not provided | 2021-10-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001815508 | SCV002136259 | pathogenic | not provided | 2020-11-17 | 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 with ATR-related conditions. ClinVar contains an entry for this variant (Variation ID: 930484). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg2425*) in the ATR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATR are known to be pathogenic (PMID: 21228398, 23144622). |