NM_152296.5(ATP1A3):c.961A>C (p.Asn321His) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 22, 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:: RCV002921049.2

Allele description [Variation Report for NM_152296.5(ATP1A3):c.961A>C (p.Asn321His)]

NM_152296.5(ATP1A3):c.961A>C (p.Asn321His)

Gene:

ATP1A3:ATPase Na+/K+ transporting subunit alpha 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_152296.5(ATP1A3):c.961A>C (p.Asn321His)

HGVS:

NC_000019.10:g.41984950T>G
NG_008015.1:g.14281A>C
NM_001256213.2:c.994A>C
NM_001256214.2:c.1000A>C
NM_152296.5:c.961A>CMANE SELECT
NP_001243142.1:p.Asn332His
NP_001243143.1:p.Asn334His
NP_689509.1:p.Asn321His
LRG_1186t1:c.961A>C
LRG_1186:g.14281A>C
LRG_1186p1:p.Asn321His
NC_000019.9:g.42489102T>G
NM_152296.3:c.961A>C

Protein change:

N321H

Molecular consequence:

NM_001256213.2:c.994A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001256214.2:c.1000A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_152296.5:c.961A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003665601	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 22, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003665601

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 22, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.

Montaut S, Tranchant C, Drouot N, Rudolf G, Guissart C, Tarabeux J, Stemmelen T, Velt A, Fourrage C, Nitschké P, Gerard B, Mandel JL, Koenig M, Chelly J, Anheim M; French Parkinson’s and Movement Disorders Consortium..

JAMA Neurol. 2018 Oct 1;75(10):1234-1245. doi: 10.1001/jamaneurol.2018.1478.

PubMed [citation]

PMID:: 29913018
PMCID:: PMC6233854

Details of each submission

From Ambry Genetics, SCV003665601.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The c.961A>C (p.N321H) alteration is located in exon 8 (coding exon 8) of the ATP1A3 gene. This alteration results from an A to C substitution at nucleotide position 961, causing the asparagine (N) at amino acid position 321 to be replaced by a histidine (H). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant has been previously reported in a patient with myoclonus (Montaut, 2018). This amino acid position is highly conserved in available vertebrate species. This missense alteration is located in a region that has a low rate of benign missense variation (Lek, 2016; Firth, 2009). The in silico prediction for this alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 1, 2024

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