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NC_000019.9:g.(?_42479761)_(42492734_?)del AND Dystonia 12

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 13, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003113683.3

Allele description [Variation Report for NC_000019.9:g.(?_42479761)_(42492734_?)del]

NC_000019.9:g.(?_42479761)_(42492734_?)del

Gene:
ATP1A3:ATPase Na+/K+ transporting subunit alpha 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.2
Genomic location:
Chr19: 42479761 - 42492734 (on Assembly GRCh37)
Preferred name:
NC_000019.9:g.(?_42479761)_(42492734_?)del
HGVS:
NC_000019.9:g.(?_42479761)_(42492734_?)del

Condition(s)

Name:
Dystonia 12 (DYT12)
Synonyms:
DYT-ATP1A3; Rapid-Onset Dystonia-Parkinsonism
Identifiers:
MONDO: MONDO:0007496; MedGen: C1868681; Orphanet: 71517; OMIM: 128235

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003796427Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Mar 13, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding.

Weigand KM, Messchaert M, Swarts HG, Russel FG, Koenderink JB.

Biochim Biophys Acta. 2014 Jul;1842(7):1010-6. doi: 10.1016/j.bbadis.2014.03.002. Epub 2014 Mar 12.

PubMed [citation]
PMID:
24631656

Heterozygous mice deficient in Atp1a3 exhibit motor deficits by chronic restraint stress.

Sugimoto H, Ikeda K, Kawakami K.

Behav Brain Res. 2014 Oct 1;272:100-10. doi: 10.1016/j.bbr.2014.06.048. Epub 2014 Jun 29.

PubMed [citation]
PMID:
24983657
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV003796427.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant is a gross deletion of the genomic region encompassing exon(s) 2-16 of the ATP1A3 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in ATP1A3 are known to be pathogenic (PMID: 24631656, 24983657). This variant has not been reported in the literature in individuals affected with ATP1A3-related conditions. For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 11, 2023