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NM_000182.5(HADHA):c.1645A>G (p.Arg549Gly)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jun 17, 2019)
Last evaluated:
Aug 7, 2018
Accession:
VCV000689365.1
Variation ID:
689365
Description:
single nucleotide variant
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NM_000182.5(HADHA):c.1645A>G (p.Arg549Gly)

Allele ID
676958
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p23.3
Genomic location
2: 26194614 (GRCh38) GRCh38 UCSC
2: 26417483 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_747t1:c.1645A>G LRG_747p1:p.Arg549Gly
NC_000002.11:g.26417483T>C
NC_000002.12:g.26194614T>C
... more HGVS
Protein change
R549G
Other names
-
Canonical SPDI
NC_000002.12:26194613:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1574603062
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Aug 7, 2018 RCV000850071.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GAREM2 - - GRCh38
GRCh37
1 255
HADHA - - GRCh38
GRCh37
216 473

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 07, 2018)
criteria provided, single submitter
Method: clinical testing
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency
Allele origin: germline
Kariminejad - Najmabadi Pathology & Genetics Center
Accession: SCV000992236.1
Submitted: (Jun 17, 2019)
Evidence details

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 rs1574603062...

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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