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NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
May 6, 2020
Accession:
VCV000092258.8
Variation ID:
92258
Description:
single nucleotide variant
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NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)

Allele ID
98169
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 75732682 (GRCh38) GRCh38 UCSC
1: 76198367 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_838:g.13325C>T
LRG_838t1:c.157C>T LRG_838p1:p.Arg53Cys
NC_000001.10:g.76198367C>T
... more HGVS
Protein change
R53C, R57C, R17C
Other names
-
Canonical SPDI
NC_000001.11:75732681:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00003
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA220173
UniProtKB: P11310#VAR_000317
dbSNP: rs398123072
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Aug 15, 2016 RCV000077882.6
Pathogenic 4 criteria provided, multiple submitters, no conflicts May 6, 2020 RCV000176961.10
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACADM - - GRCh38
GRCh37
463 491

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 20, 2015)
criteria provided, single submitter
Method: clinical testing
Medium-chain acyl-coenzyme A dehydrogenase deficiency
(Autosomal recessive inheritance)
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000268474.1
Submitted: (May 05, 2016)
Evidence details
Pathogenic
(Nov 16, 2012)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000228752.5
Submitted: (Jun 30, 2017)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000893467.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Pathogenic
(Aug 15, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000329673.6
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R53C pathogenic variant in the ACADM gene has been reported previously in association with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (Derks et al., 2014). Expression … (more)
Pathogenic
(May 06, 2020)
criteria provided, single submitter
Method: clinical testing
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Allele origin: germline
Invitae
Accession: SCV000943514.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (7)
Comment:
This sequence change replaces arginine with cysteine at codon 53 of the ACADM protein (p.Arg53Cys). The arginine residue is highly conserved and there is a … (more)
Likely pathogenic
(Sep 23, 2016)
no assertion criteria provided
Method: clinical testing
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000487011.2
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (8)

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
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. Hara K Molecular genetics and metabolism 2016 PMID: 26947917
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency. Derks TG Journal of inherited metabolic disease 2014 PMID: 24623196
Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency. Purevsuren J Molecular genetics and metabolism 2012 PMID: 22796001
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. Smith EH Molecular genetics and metabolism 2010 PMID: 20434380
A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns. ter Veld F PloS one 2009 PMID: 19649258
The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. Derks TG The Journal of pediatrics 2006 PMID: 16737882
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Maier EM Human mutation 2005 PMID: 15832312
Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells. Jensen TG Human mutation 1995 PMID: 8535441
Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme. Bross P The Journal of biological chemistry 1995 PMID: 7730333
A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD). Andresen BS American journal of human genetics 1993 PMID: 8102510
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ACADM - - - -

Text-mined citations for rs398123072...

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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 Dec 04, 2021