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_152783.5(D2HGDH):c.549A>T (p.Glu183Asp)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 25, 2020
Accession:
VCV001015674.1
Variation ID:
1015674
Description:
single nucleotide variant
Help

NM_152783.5(D2HGDH):c.549A>T (p.Glu183Asp)

Allele ID
1003865
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q37.3
Genomic location
2: 241743680 (GRCh38) GRCh38 UCSC
2: 242683095 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.242683095A>T
NC_000002.12:g.241743680A>T
NG_012012.1:g.14066A>T
... more HGVS
Protein change
E183D, E49D
Other names
-
Canonical SPDI
NC_000002.12:241743679:A:T
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
Uncertain significance 1 criteria provided, single submitter Jan 25, 2020 RCV001314570.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 25, 2020)
criteria provided, single submitter
Method: clinical testing
D-2-hydroxyglutaric aciduria 1
Allele origin: germline
Invitae
Accession: SCV001505106.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glutamic acid with aspartic acid at codon 183 of the D2HGDH protein (p.Glu183Asp). The glutamic acid residue is moderately conserved and … (more)

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