ClinVar Miner

Submissions for variant NM_016529.6(ATP8A2):c.1058-2A>G

gnomAD frequency: 0.00001  dbSNP: rs1304832284
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197115 SCV001367751 likely pathogenic Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2. This variant was detected in homozygous state.

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