Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000624070 | SCV000742940 | pathogenic | Inborn genetic diseases | 2017-11-28 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000988969 | SCV001138922 | likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002533139 | SCV003021998 | pathogenic | not provided | 2022-08-22 | 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: 522073). This variant has not been reported in the literature in individuals affected with ATP8A2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Arg588Serfs*5) in the ATP8A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP8A2 are known to be pathogenic (PMID: 28454995, 29531481). |
Preventiongenetics, |
RCV003411475 | SCV004114776 | likely pathogenic | ATP8A2-related condition | 2023-02-23 | criteria provided, single submitter | clinical testing | The ATP8A2 c.1761dupT variant is predicted to result in a frameshift and premature protein termination (p.Arg588Serfs*5). This variant was reported in the compound heterozygous state in an individual with developmental delay, choreoathetosis, optic atrophy, and encephalopathy. This variant is reported in 0.0065% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/13-26151253-C-CT). Frameshift variants in ATP8A2 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |