ClinVar Miner

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

dbSNP: rs1555865401
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Total submissions: 5
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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
PreventionGenetics, part of Exact Sciences RCV004725134 SCV005338316 pathogenic ATP1A3-related disorder 2024-09-25 no assertion criteria provided clinical testing The ATP1A3 c.424G>A variant is predicted to result in the amino acid substitution p.Val142Met. This variant is referred to as NM_152296:c.385G>A (p.Val129Met) when reported off of a different transcript. This variant has been reported with de novo occurrence in two individuals, one with childhood-onset schizophrenia (Smedemark-Margulies et al. 2016. PubMed ID: 27626066) and another with an undefined ATP1A3-related phenotype (Vezyroglou et al. 2022. PubMed ID: 36192182). This variant has not been reported in a large population database, indicating this variant is rare. This variant is interpreted as pathogenic.

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