Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg)

Help
Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 28, 2020
Accession:
VCV000218266.3
Variation ID:
218266
Description:
single nucleotide variant
Help

NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg)

Allele ID
214898
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q32.3
Genomic location
13: 100515529 (GRCh38) GRCh38 UCSC
13: 101167783 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P05165:p.Gly668Arg
NC_000013.10:g.101167783G>A
NC_000013.11:g.100515529G>A
... more HGVS
Protein change
G668R, G594R, G335R, G650R, G353R, G620R, G642R, G305R
Other names
-
Canonical SPDI
NC_000013.11:100515528:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA7033866
UniProtKB: P05165#VAR_009101
dbSNP: rs771438170
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Apr 28, 2020 RCV000235940.3
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 01, 2014)
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: SCV000256857.1
Submitted: (Nov 04, 2015)
Comment:
Missense mutation
Evidence details
Publications
PubMed (1)
Likely pathogenic
(May 31, 2017)
criteria provided, single submitter
Method: clinical testing
Propionic acidemia
Allele origin: unknown
Counsyl
Accession: SCV000791909.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (5)
Pathogenic
(Apr 28, 2020)
criteria provided, single submitter
Method: clinical testing
Propionic acidemia
Allele origin: germline
Invitae
Accession: SCV001398286.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces glycine with arginine at codon 668 of the PCCA protein (p.Gly668Arg). The glycine residue is highly conserved and there is a … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Novel Heterozygous PCCA Mutations with Fatal Outcome in Propionic Acidemia. Yang B Indian pediatrics 2018 PMID: 29978829
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
Crystal structure of the alpha(6)beta(6) holoenzyme of propionyl-coenzyme A carboxylase. Huang CS Nature 2010 PMID: 20725044
[Gene mutation analysis in patients with propionic acidemia]. Hu YH Zhonghua er ke za zhi = Chinese journal of pediatrics 2008 PMID: 19099776
Functional characterization of PCCA mutations causing propionic acidemia. Clavero S Biochimica et biophysica acta 2002 PMID: 12385775
Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia. Campeau E Molecular genetics and metabolism 1999 PMID: 10329019

Text-mined citations for rs771438170...

Help
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