Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501832 | SCV000593267 | pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 2015-11-23 | criteria provided, single submitter | clinical testing | |
Neuberg Centre For Genomic Medicine, |
RCV000501832 | SCV005060979 | likely pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | criteria provided, single submitter | clinical testing | The observed invariant splice acceptor c.875-2A>G variant in APTX gene has been reported previously in compound heterozygous state in individual(s) affected with early-onset ataxia with oculomotor apraxia and hypoalbuminemia (Sun M, et al., 2019). The c.875-2A>G variant is absent in gnomAD Exomes. This variant has been submitted to the ClinVar database as Pathogenic. Loss of function variants have been previously reported to be disease causing. However, additional functional studies will be required to prove the pathogenicity of this variant. For these reasons, this variant has been classified as Likely Pathogenic. |