Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Consultorio y Laboratorio de Neurogenética, |
RCV001261516 | SCV001424132 | likely pathogenic | Ataxia-telangiectasia syndrome | criteria provided, single submitter | clinical testing | ||
Labcorp Genetics |
RCV001261516 | SCV002247210 | pathogenic | Ataxia-telangiectasia syndrome | 2021-11-01 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp639Argfs*2) 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 premature translational stop signal has been observed in individual(s) with ataxia-telangiectasia (PMID: 33084218). ClinVar contains an entry for this variant (Variation ID: 982023). For these reasons, this variant has been classified as Pathogenic. |