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NM_000282.4(PCCA):c.1312G>T (p.Gly438Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 5, 2020
Accession:
VCV001073696.1
Variation ID:
1073696
Description:
single nucleotide variant
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NM_000282.4(PCCA):c.1312G>T (p.Gly438Ter)

Allele ID
1062783
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q32.3
Genomic location
13: 100307219 (GRCh38) GRCh38 UCSC
13: 100959473 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.100959473G>T
NC_000013.11:g.100307219G>T
NG_008768.1:g.223137G>T
... more HGVS
Protein change
G123*, G364*, G390*, G412*, G438*, G75*
Other names
-
Canonical SPDI
NC_000013.11:100307218:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Apr 5, 2020 RCV001386768.1
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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
Pathogenic
(Apr 05, 2020)
criteria provided, single submitter
Method: clinical testing
Propionic acidemia
Allele origin: germline
Invitae
Accession: SCV001587116.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Gly438*) in the PCCA gene. It is expected to result in an absent or disrupted protein … (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
Propionic acidemia: mutation update and functional and structural effects of the variant alleles. Desviat LR Molecular genetics and metabolism 2004 PMID: 15464417

Record last updated Oct 08, 2021