Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671246 | SCV000796203 | likely pathogenic | Ataxia-telangiectasia syndrome | 2017-12-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000671246 | SCV004376069 | pathogenic | Ataxia-telangiectasia syndrome | 2022-12-07 | 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: 555424). This variant is also known as c.6592_6593delCT. This premature translational stop signal has been observed in individual(s) with developmental disorders (PMID: 32005694). This variant is present in population databases (rs747057367, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Ser2199*) 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). |
Laboratory for Genotyping Development, |
RCV003163064 | SCV002758400 | pathogenic | Gastric cancer | 2021-07-01 | no assertion criteria provided | research |