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NM_000282.4(PCCA):c.590G>C (p.Gly197Ala)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Feb 20, 2020)
Last evaluated:
Mar 13, 2019
Accession:
VCV000573470.3
Variation ID:
573470
Description:
single nucleotide variant
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NM_000282.4(PCCA):c.590G>C (p.Gly197Ala)

Allele ID
567141
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q32.3
Genomic location
13: 100209453 (GRCh38) GRCh38 UCSC
13: 100861707 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.100861707G>C
NC_000013.11:g.100209453G>C
NG_008768.1:g.125371G>C
... more HGVS
Protein change
G197A, G171A
Other names
-
Canonical SPDI
NC_000013.11:100209452:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
The Genome Aggregation Database (gnomAD) 0.00006
Links
dbSNP: rs766245108
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Mar 13, 2019 RCV000695154.3
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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
509 598

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 28, 2017)
criteria provided, single submitter
Method: clinical testing
Propionic acidemia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001272982.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Mar 13, 2019)
criteria provided, single submitter
Method: clinical testing
Propionicacidemia
Allele origin: germline
Invitae
Accession: SCV000823636.2
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces glycine with alanine at codon 197 of the PCCA protein (p.Gly197Ala). The glycine 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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs766245108...

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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