ClinVar Miner

Submissions for variant NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs)

dbSNP: rs1156904586
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Total submissions: 4
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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, part of Exact Sciences 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.

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