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NM_000182.5(HADHA):c.2175C>T (p.Gly725=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Jul 4, 2021)
Last evaluated:
Nov 11, 2020
Accession:
VCV000512927.11
Variation ID:
512927
Description:
single nucleotide variant
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NM_000182.5(HADHA):c.2175C>T (p.Gly725=)

Allele ID
499872
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p23.3
Genomic location
2: 26191367 (GRCh38) GRCh38 UCSC
2: 26414236 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.26414236G>A
NC_000002.12:g.26191367G>A
NM_000182.5:c.2175C>T MANE Select NP_000173.2:p.Gly725= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:26191366:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00019
Exome Aggregation Consortium (ExAC) 0.00012
The Genome Aggregation Database (gnomAD) 0.00010
Trans-Omics for Precision Medicine (TOPMed) 0.00018
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
Links
ClinGen: CA1559331
dbSNP: rs375399631
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 16, 2017 RCV000728812.4
Likely benign 1 criteria provided, single submitter Nov 1, 2017 RCV000606780.1
Likely benign 1 criteria provided, single submitter Nov 11, 2020 RCV001084709.2
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001138403.1
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001138404.1
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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
1 249
HADHA - - GRCh38
GRCh37
215 466

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Nov 01, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000724070.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Uncertain significance
(Aug 16, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000856428.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001298450.1
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
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Mitochondrial trifunctional protein deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001298451.1
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)
Likely benign
(Nov 11, 2020)
criteria provided, single submitter
Method: clinical testing
Mitochondrial trifunctional protein deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Allele origin: germline
Invitae
Accession: SCV001028417.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(May 01, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001152186.6
Submitted: (Jul 04, 2021)
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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=HADHA - - - -

Text-mined citations for rs375399631...

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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 Jul 10, 2021