ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2401G>T (p.Asp801Tyr)

dbSNP: rs80356537
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000013777 SCV003443258 pathogenic Dystonia 12 2022-12-16 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with rapid-onset dystonia-parkinsonism (PMID: 9109901, 15260953). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 801 of the ATP1A3 protein (p.Asp801Tyr). ClinVar contains an entry for this variant (Variation ID: 12914). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Asp801 amino acid residue in ATP1A3. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 24100174, 26410222). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies have shown that this missense change affects ATP1A3 function (PMID: 27549929, 32653672). 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.
OMIM RCV000013777 SCV000034024 pathogenic Dystonia 12 2004-07-22 no assertion criteria provided literature only

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