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NM_000282.4(PCCA):c.878A>G (p.Gln293Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Oct 4, 2018
Accession:
VCV000218252.2
Variation ID:
218252
Description:
single nucleotide variant
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NM_000282.4(PCCA):c.878A>G (p.Gln293Arg)

Allele ID
214893
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q32.3
Genomic location
13: 100268747 (GRCh38) GRCh38 UCSC
13: 100921001 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.100921001A>G
NC_000013.11:g.100268747A>G
NG_008768.1:g.184665A>G
... more HGVS
Protein change
Q293R, Q267R
Other names
-
Canonical SPDI
NC_000013.11:100268746:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10575828
dbSNP: rs879253805
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 4, 2018 RCV000236234.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PCCA - - GRCh38
GRCh37
510 599

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 01, 2013)
criteria provided, single submitter
Method: research
Propionic Acidemia
Allele origin: germline
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital
Study: ORGANIC ACIDURIAS
Accession: SCV000256843.1
Submitted: (Nov 04, 2015)
Comment:
Missense mutation
Evidence details
Publications
PubMed (1)
Uncertain significance
(Oct 04, 2018)
criteria provided, single submitter
Method: clinical testing
Propionyl-CoA carboxylase deficiency
Allele origin: germline
Invitae
Accession: SCV000954494.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces glutamine with arginine at codon 293 of the PCCA protein (p.Gln293Arg). The glutamine residue is highly conserved and there is a … (more)

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
Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes. Gupta D Genetic testing and molecular biomarkers 2016 PMID: 27227689
Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patients. Lévesque S JIMD reports 2012 PMID: 23430860

Text-mined citations for rs879253805...

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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 Oct 24, 2021