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_000159.4(GCDH):c.675G>A (p.Trp225Ter)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Nov 23, 2016)
Last evaluated:
Mar 2, 2016
Accession:
VCV000191375.1
Variation ID:
191375
Description:
single nucleotide variant
Help

NM_000159.4(GCDH):c.675G>A (p.Trp225Ter)

Allele ID
189178
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.13
Genomic location
19: 12896244 (GRCh38) GRCh38 UCSC
19: 13007058 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.12896244G>A
NC_000019.9:g.13007058G>A
NM_000159.4:c.675G>A MANE Select NP_000150.1:p.Trp225Ter nonsense
... more HGVS
Protein change
W225*
Other names
-
Canonical SPDI
NC_000019.10:12896243:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA274778
dbSNP: rs786205862
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Mar 2, 2016 RCV000171558.4
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GCDH - - GRCh38
GRCh37
376 460

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 02, 2016)
criteria provided, single submitter
Method: clinical testing
Glutaric aciduria, type 1
Allele origin: unknown
Counsyl
Accession: SCV000485941.1
Submitted: (Nov 23, 2016)
Evidence details
Pathogenic
(Dec 08, 2015)
no assertion criteria provided
Method: research
Glutaric aciduria, type 1
Allele origin: germline
National Institute of Mental Health and Neurosciences
Accession: SCV000223743.2
Submitted: (Dec 21, 2015)
Evidence details

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.

Text-mined citations for rs786205862...

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 Apr 08, 2021