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NM_152296.5(ATP1A3):c.974G>A (p.Gly325Asp)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 14, 2015)
Last evaluated:
Jun 10, 2014
Accession:
VCV000216891.1
Variation ID:
216891
Description:
single nucleotide variant
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NM_152296.5(ATP1A3):c.974G>A (p.Gly325Asp)

Allele ID
213654
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.2
Genomic location
19: 41984937 (GRCh38) GRCh38 UCSC
19: 42489089 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1186:g.14294G>A
LRG_1186t1:c.974G>A LRG_1186p1:p.Gly325Asp
NC_000019.10:g.41984937C>T
... more HGVS
Protein change
G325D, G336D, G338D
Other names
-
Canonical SPDI
NC_000019.10:41984936:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA279013
dbSNP: rs863224847
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jun 10, 2014 RCV000199314.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ATP1A3 - - GRCh38
GRCh37
611 625

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 10, 2014)
criteria provided, single submitter
Method: clinical testing
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
(Autosomal dominant inheritance)
Allele origin: de novo
UCLA Clinical Genomics Center, UCLA
Study: CES
Accession: SCV000255326.2
Submitted: (May 14, 2015)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Clinical exome sequencing for genetic identification of rare Mendelian disorders. Lee H JAMA 2014 PMID: 25326637

Text-mined citations for rs863224847...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021