ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp)

dbSNP: rs1555863693
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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 RCV001389186 SCV001590454 pathogenic Dystonia 12 2020-04-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly358 amino acid residue in ATP1A3. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 25656163). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with clinical features of dystonia (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with aspartic acid at codon 358 of the ATP1A3 protein (p.Gly358Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid.
GeneReviews RCV001389186 SCV002559233 not provided Dystonia 12 no assertion provided literature only

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