Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001201897 | SCV001372988 | pathogenic | Ataxia-telangiectasia syndrome | 2023-11-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys397Argfs*9) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 933642). For these reasons, this variant has been classified as Pathogenic. |
Center for Genomic Medicine, |
RCV003321805 | SCV004027148 | likely pathogenic | not provided | 2023-08-15 | criteria provided, single submitter | clinical testing |