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NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 26, 2020
Accession:
VCV000555100.3
Variation ID:
555100
Description:
single nucleotide variant
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NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala)

Allele ID
541372
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 75762704 (GRCh38) GRCh38 UCSC
1: 76228389 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.76228389A>G
NC_000001.11:g.75762704A>G
NG_007045.2:g.43347A>G
... more HGVS
Protein change
T403A, T214A, T407A, T367A, T436A
Other names
-
Canonical SPDI
NC_000001.11:75762703:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1462472677
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Aug 26, 2020 RCV000670850.3
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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
Likely pathogenic
(Nov 21, 2017)
criteria provided, single submitter
Method: clinical testing
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000795761.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (2)
Pathogenic
(Aug 26, 2020)
criteria provided, single submitter
Method: clinical testing
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Allele origin: germline
Invitae
Accession: SCV001409308.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces threonine with alanine at codon 403 of the ACADM protein (p.Thr403Ala). The threonine residue is highly 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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Title Author Journal Year Link
Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing. Narravula A Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 27308838
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

Text-mined citations for rs1462472677...

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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