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NM_152783.5(D2HGDH):c.697G>A (p.Gly233Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 5, 2020
Accession:
VCV000898353.2
Variation ID:
898353
Description:
single nucleotide variant
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NM_152783.5(D2HGDH):c.697G>A (p.Gly233Ser)

Allele ID
884430
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q37.3
Genomic location
2: 241744721 (GRCh38) GRCh38 UCSC
2: 242684136 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.242684136G>A
NC_000002.12:g.241744721G>A
NG_012012.1:g.15107G>A
... more HGVS
Protein change
G46S, G99S, G233S
Other names
-
Canonical SPDI
NC_000002.12:241744720:G:A
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
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Aug 5, 2020 RCV001142182.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
D2HGDH - - GRCh38
GRCh37
217 330

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
D-2-hydroxyglutaric aciduria 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001302594.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
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
(Aug 05, 2020)
criteria provided, single submitter
Method: clinical testing
D-2-hydroxyglutaric aciduria 1
Allele origin: germline
Invitae
Accession: SCV001535083.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces glycine with serine at codon 233 of the D2HGDH protein (p.Gly233Ser). 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
D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants. Pop A Human mutation 2019 PMID: 30908763
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria. Kranendijk M Human mutation 2010 PMID: 20020533

Record last updated Oct 08, 2021