Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666871 | SCV000791235 | likely pathogenic | Ataxia-telangiectasia syndrome | 2017-05-05 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003465456 | SCV004212041 | likely pathogenic | Familial cancer of breast | 2023-03-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000666871 | SCV004489699 | pathogenic | Ataxia-telangiectasia syndrome | 2023-08-29 | criteria provided, single submitter | clinical testing | This variant is also known as c.4098_4099delTG. ClinVar contains an entry for this variant (Variation ID: 551735). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with familial pancreatic cancer (PMID: 32255556). This sequence change creates a premature translational stop signal (p.Cys1366*) 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). |