Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001204871 | SCV001376099 | pathogenic | Ataxia-telangiectasia syndrome | 2023-12-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1919*) 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 premature translational stop signal has been observed in individual(s) with ATM-related cancer (PMID: 32658311). ClinVar contains an entry for this variant (Variation ID: 936134). For these reasons, this variant has been classified as Pathogenic. |
Medical Genetics Laboratory, |
RCV001554317 | SCV001774835 | likely pathogenic | Breast carcinoma | 2021-08-08 | no assertion criteria provided | clinical testing | INVASIVE DUCTAL CARCINOMA estrogen receptor: positive progesterone receptor: positive HER2 receptor: negative |