ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) (rs267606670)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000128465 SCV000246634 pathogenic Alternating hemiplegia of childhood 2 2015-07-23 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network,NIH RCV000128465 SCV000746607 pathogenic Alternating hemiplegia of childhood 2 2017-10-27 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763432 SCV000894198 pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2 2018-10-31 criteria provided, single submitter clinical testing
Institute of Human Genetics,Klinikum rechts der Isar RCV000013778 SCV001149690 pathogenic Dystonia 12 2019-06-13 criteria provided, single submitter clinical testing
Invitae RCV000013778 SCV001230208 pathogenic Dystonia 12 2019-05-30 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 923 of the ATP1A3 protein (p.Asp923Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in individuals affected with rapid-onset dystonia-Parkinsonism and was observed to segregate with alternating hemiplegia of childhood in a family (PMID: 19652145, 28849312, 22924536, 23483595). ClinVar contains an entry for this variant (Variation ID: 12915). This variant has been reported to affect ATP1A3 protein function (PMID: 20576601). This variant disrupts the p.Asp923 amino acid residue in ATP1A3. Other variant(s) that disrupt this residue (p.Asp923Tyr) have been determined to be pathogenic (PMID: 22850527, 24842602). 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 RCV000013778 SCV000034025 pathogenic Dystonia 12 2014-01-01 no assertion criteria provided literature only
GeneReviews RCV000013778 SCV000087047 pathologic Dystonia 12 2011-08-25 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000128465 SCV000172167 pathogenic Alternating hemiplegia of childhood 2 2014-01-01 no assertion criteria provided literature only

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