ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.460A>G (p.Met154Val) (rs1135401821)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris RCV000496204 SCV000586793 likely pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 2017-01-06 criteria provided, single submitter clinical testing Intellectual disability, moderate; dysmorphism (large ears; large jaw); severe cerebellar atrophy; pyramidal syndrome

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