ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2438C>T (p.Ala813Val)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001004671 SCV001164122 uncertain significance Alternating hemiplegia of childhood 2 2016-08-05 criteria provided, single submitter clinical testing
GeneDx RCV001585916 SCV001820042 likely pathogenic not provided 2024-10-25 criteria provided, single submitter clinical testing Reported previously in an individual with child-onset schizophrenia, autism spectrum disorder, and intellectual disability; inherited form an unaffected mother (PMID: 29895895); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33046383, 29895895, 35978945)
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002274115 SCV002558927 likely pathogenic Neurodevelopmental delay criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003626655 SCV004422663 uncertain significance Dystonia 12 2023-01-20 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ATP1A3 protein function. ClinVar contains an entry for this variant (Variation ID: 813739). This variant has not been reported in the literature in individuals affected with ATP1A3-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 813 of the ATP1A3 protein (p.Ala813Val).

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