ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.385G>A (p.Val129Met)

dbSNP: rs1555865401
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gene Discovery Core-Manton Center, Boston Children's Hospital RCV000225081 SCV000267646 pathogenic Juvenile onset psychosis 2016-04-11 criteria provided, single submitter research de novo
GeneDx RCV002282097 SCV002571546 likely pathogenic not provided 2022-09-02 criteria provided, single submitter clinical testing Reported previously as a de novo variant in a patient with neonatal hypotonia, pervasive developmental disorder, episodes of stiffness when sleeping, severe-injurious behaviors, and childhood-onset schizophrenia (Smedemark-Margulies et al., 2016); Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27626066)
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003114440 SCV003799075 likely pathogenic Alternating hemiplegia of childhood 2 2022-12-20 criteria provided, single submitter clinical testing PS2, PM2, PP2, PP3
GeneReviews RCV002274003 SCV002559230 not provided Dystonia 12 no assertion provided literature only

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