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NM_152783.5(D2HGDH):c.1370T>C (p.Leu457Pro)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Nov 1, 2018
Accession:
VCV000649282.1
Variation ID:
649282
Description:
single nucleotide variant
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NM_152783.5(D2HGDH):c.1370T>C (p.Leu457Pro)

Allele ID
629749
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q37.3
Genomic location
2: 241767773 (GRCh38) GRCh38 UCSC
2: 242707188 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.242707188T>C
NC_000002.12:g.241767773T>C
NG_012012.1:g.38159T>C
... more HGVS
Protein change
L270P, L323P, L457P
Other names
-
Canonical SPDI
NC_000002.12:241767772:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1575352566
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Nov 1, 2018 RCV000804179.1
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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
(Nov 01, 2018)
criteria provided, single submitter
Method: clinical testing
D-2-hydroxyglutaric aciduria 1
Allele origin: germline
Invitae
Accession: SCV000944075.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces leucine with proline at codon 457 of the D2HGDH protein (p.Leu457Pro). The leucine residue is moderately 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 rs1575352566...

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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