Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000386810 | SCV000345777 | uncertain significance | not provided | 2016-09-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000386810 | SCV001581555 | pathogenic | not provided | 2020-03-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATR are known to be pathogenic (PMID: 21228398, 23144622). This variant has not been reported in the literature in individuals with ATR-related conditions. ClinVar contains an entry for this variant (Variation ID: 291086). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His453Argfs*18) in the ATR gene. It is expected to result in an absent or disrupted protein product. |