Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668583 | SCV000793209 | likely pathogenic | Ataxia-telangiectasia syndrome | 2017-08-04 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000668583 | SCV000947775 | pathogenic | Ataxia-telangiectasia syndrome | 2018-11-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant has not been reported in the literature in individuals with ATM-related disease. ClinVar contains an entry for this variant (Variation ID: 553187). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu585Phefs*4) in the ATM gene. It is expected to result in an absent or disrupted protein product. |