ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2780G>A (p.Cys927Tyr)

dbSNP: rs606231444
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795845 SCV005418141 likely pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2; Developmental and epileptic encephalopathy 99 criteria provided, single submitter clinical testing PM2_Supporting+PS4_Supporting+PM6_Supporting+PP3+PP4+PM1

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