ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.266G>C (p.Gly89Ala)

dbSNP: rs1599725621
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995500 SCV001149694 likely pathogenic Dystonia 12 2019-06-13 criteria provided, single submitter clinical testing
GeneDx RCV003442137 SCV004168751 pathogenic not provided 2023-04-05 criteria provided, single submitter clinical testing 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: 33619735, 36192182, 33098801, 35872528)
Labcorp Genetics (formerly Invitae), Labcorp RCV000995500 SCV004375143 pathogenic Dystonia 12 2022-10-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 807379). 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. For these reasons, this variant has been classified as Pathogenic. This missense change has been observed in individual(s) with dystonia (PMID: 33098801). In at least one individual the variant was observed to be de novo. This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 89 of the ATP1A3 protein (p.Gly89Ala). This variant is not present in population databases (gnomAD no frequency).

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