ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=) (rs1353417724)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767900 SCV000898539 uncertain significance Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss; Dystonia 12; Alternating hemiplegia of childhood 2 2018-10-25 criteria provided, single submitter clinical testing ATP1A3 NM_152296.4 exon 9 p.Thr392Thr (c.1176C>T): This variant has not been reported in the literature but is present in 2/15304 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain._x000D_

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