NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 25, 2020
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:: RCV000423537.5

Allele description [Variation Report for NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His)]

NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His)

Gene:

ATP1A2:ATPase Na+/K+ transporting subunit alpha 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.2

Genomic location:

Preferred name:

NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His)

HGVS:

NC_000001.11:g.160130283G>A
NG_008014.1:g.19526G>A
NM_000702.4:c.1643G>AMANE SELECT
NP_000693.1:p.Arg548His
LRG_6:g.19526G>A
NC_000001.10:g.160100073G>A
NM_000702.3:c.1643G>A

Protein change:

R548H; ARG548HIS

Links:

OMIM: 182340.0010; dbSNP: rs121918616

NCBI 1000 Genomes Browser:

rs121918616

Molecular consequence:

NM_000702.4:c.1643G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000520966	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Aug 25, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000520966

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Aug 25, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000520966.6

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

Description

Published in vitro functional studies demonstrated that R548H variant results in reduced ATPase activity, alters the affinity for sodium and potassium, and reduces catalytic turnover compared to the wild type protein (Swarts et al., 2013); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 18498390, 23954377, 16088919, 16344534, 27445835)

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

Last Updated: Feb 20, 2024

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