ClinVar Miner

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

gnomAD frequency: 0.00002  dbSNP: rs1353417724
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Total submissions: 3
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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-sensorineural hearing loss syndrome; 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_
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224389 SCV003920270 uncertain significance Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2; Developmental and epileptic encephalopathy 99 2021-03-30 criteria provided, single submitter clinical testing ATP1A3 NM_00152296 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.
Invitae RCV003514410 SCV004323001 likely benign Dystonia 12 2024-01-02 criteria provided, single submitter clinical testing

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