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NM_000282.4(PCCA):c.230G>A (p.Arg77Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 1, 2019)
Last evaluated:
Aug 22, 2017
Accession:
VCV000631693.1
Variation ID:
631693
Description:
single nucleotide variant
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NM_000282.4(PCCA):c.230G>A (p.Arg77Gln)

Allele ID
620462
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q32.3
Genomic location
13: 100111887 (GRCh38) GRCh38 UCSC
13: 100764141 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.100764141G>A
NC_000013.11:g.100111887G>A
NG_008768.1:g.27805G>A
... more HGVS
Protein change
R77Q, R51Q
Other names
-
Canonical SPDI
NC_000013.11:100111886:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs1387778734
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 22, 2017 RCV000778383.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Uncertain significance
(Aug 22, 2017)
criteria provided, single submitter
Method: clinical testing
Propionic acidemia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000914605.1
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (1)
Comment:
The PCCA c.230G>A (p.Arg77Gln) missense variant was identified in a compound heterozygous state with a stop-gained variant in a female who was diagnosed with propionic … (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
Clinical characteristics and mutation analysis of propionic acidemia in Thailand. Vatanavicharn N World journal of pediatrics : WJP 2014 PMID: 24464666

Text-mined citations for rs1387778734...

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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 08, 2021