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NM_152783.5(D2HGDH):c.1453G>A (p.Val485Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jul 4, 2021)
Last evaluated:
May 1, 2021
Accession:
VCV000335320.10
Variation ID:
335320
Description:
single nucleotide variant
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NM_152783.5(D2HGDH):c.1453G>A (p.Val485Ile)

Allele ID
288607
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q37.3
Genomic location
2: 241767856 (GRCh38) GRCh38 UCSC
2: 242707271 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.242707271G>A
NC_000002.12:g.241767856G>A
NG_012012.1:g.38242G>A
... more HGVS
Protein change
V485I, V351I, V298I
Other names
-
Canonical SPDI
NC_000002.12:241767855:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00013
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00010
The Genome Aggregation Database (gnomAD) 0.00026
Links
ClinGen: CA2222239
dbSNP: rs375162898
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 Feb 22, 2020 RCV000344675.4
Uncertain significance 1 criteria provided, single submitter May 1, 2021 RCV000513354.4
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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
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
D-2-hydroxyglutaric aciduria 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000429416.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(May 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000609040.11
Submitted: (Jul 04, 2021)
Evidence details
Uncertain significance
(Feb 22, 2020)
criteria provided, single submitter
Method: clinical testing
D-2-hydroxyglutaric aciduria 1
Allele origin: germline
Invitae
Accession: SCV001393347.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces valine with isoleucine at codon 485 of the D2HGDH protein (p.Val485Ile). The valine residue is weakly 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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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 rs375162898...

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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