Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001207152 | SCV001378492 | pathogenic | Ataxia-telangiectasia syndrome | 2022-06-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 938009). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 29625052). This variant is present in population databases (rs773964990, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gln1098*) 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). |