ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2839G>C (p.Gly947Arg)

dbSNP: rs398122887
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001849915 SCV002232575 pathogenic Dystonia 12 2021-02-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 947 of the ATP1A3 protein (p.Gly947Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with alternating hemiplegia of childhood (PMID: 22842232). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 139579). This variant has been reported to affect ATP1A3 protein function (PMID: 24631656). This variant disrupts the p.Gly947 amino acid residue in ATP1A3. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000128466 SCV000172168 pathogenic Alternating hemiplegia of childhood 2 2014-01-01 no assertion criteria provided literature only
GeneReviews RCV001849915 SCV000195726 not provided Dystonia 12 no assertion provided literature only

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