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NM_000016.6(ACADM):c.580A>G (p.Asn194Asp)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Pathogenic(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Aug 20, 2021)
Last evaluated:
Oct 5, 2020
Accession:
VCV000226100.10
Variation ID:
226100
Description:
single nucleotide variant
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NM_000016.6(ACADM):c.580A>G (p.Asn194Asp)

Allele ID
227886
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 75740091 (GRCh38) GRCh38 UCSC
1: 76205776 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.75740091A>G
NG_007045.2:g.20734A>G
NM_000016.6:c.580A>G MANE Select NP_000007.1:p.Asn194Asp missense
... more HGVS
Protein change
N194D, N198D, N227D, N5D, N158D
Other names
-
Canonical SPDI
NC_000001.11:75740090:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
ClinGen: CA913137
dbSNP: rs773677327
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Oct 5, 2020 RCV000211463.9
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Sep 15, 2020 RCV000755768.4
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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
462 490

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(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: SCV000268495.1
Submitted: (May 05, 2016)
Evidence details
Likely pathogenic
(Jun 25, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000883326.1
Submitted: (Oct 10, 2018)
Evidence details
Comment:
The ACADM c.580A>G; p.Asn194Asp variant (rs773677327), also published as Asn169Asp, is reported in the medical literature in individuals with MCAD deficiency in both the homozygous … (more)
Pathogenic
(Oct 05, 2020)
criteria provided, single submitter
Method: clinical testing
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Allele origin: germline
Invitae
Accession: SCV000630290.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces asparagine with aspartic acid at codon 194 of the ACADM protein (p.Asn194Asp). The asparagine residue is highly conserved and there is … (more)
Uncertain significance
(Sep 15, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001801750.1
Submitted: (Aug 20, 2021)
Evidence details
Comment:
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious … (more)
Likely pathogenic
(Feb 15, 2019)
no assertion criteria provided
Method: clinical testing
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Allele origin: unknown
Counsyl
Accession: SCV001132318.1
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (4)

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
[An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency]. Tan JQ Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2016 PMID: 27751224
Fatty Acid oxidation disorders in a chinese population in taiwan. Chien YH JIMD reports 2013 PMID: 23700290
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
Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population. Nichols MJ American journal of medical genetics. Part A 2008 PMID: 18241067

Text-mined citations for rs773677327...

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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 Nov 11, 2021