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.1187T>G (p.Val396Gly)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 19, 2021)
Last evaluated:
Feb 17, 2021
Accession:
VCV000997845.1
Variation ID:
997845
Description:
single nucleotide variant
Help

NM_000282.4(PCCA):c.1187T>G (p.Val396Gly)

Allele ID
985563
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q32.3
Genomic location
13: 100301581 (GRCh38) GRCh38 UCSC
13: 100953835 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.100953835T>G
NC_000013.11:g.100301581T>G
NG_008768.1:g.217499T>G
... more HGVS
Protein change
V370G, V396G, V81G
Other names
-
Canonical SPDI
NC_000013.11:100301580:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Feb 17, 2021 RCV001293406.1
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
(Feb 17, 2021)
criteria provided, single submitter
Method: research, in vitro
Propionic acidemia
Allele origin: germline, not applicable
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
Accession: SCV001482003.1
Submitted: (Feb 19, 2021)
Evidence details
Comment:
PS3, PM2, PM3, PP3, PP4

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
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021