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NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Sep 25, 2021)
Last evaluated:
Jan 7, 2020
Accession:
VCV000488675.7
Variation ID:
488675
Description:
single nucleotide variant
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NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter)

Allele ID
481600
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 75762754 (GRCh38) GRCh38 UCSC
1: 76228439 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.76228439C>A
NC_000001.11:g.75762754C>A
NG_007045.2:g.43397C>A
... more HGVS
Protein change
Y419*, Y452*, Y230*, Y383*, Y423*
Other names
-
Canonical SPDI
NC_000001.11:75762753:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00004
Links
ClinGen: CA913320
dbSNP: rs753928772
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jan 7, 2020 RCV000579124.2
Uncertain significance 2 criteria provided, single submitter Sep 12, 2018 RCV000633659.5
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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
Uncertain significance
(Sep 12, 2018)
criteria provided, single submitter
Method: clinical testing
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Allele origin: germline
Invitae
Accession: SCV000754916.2
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change results in a premature translational stop signal in the ACADM gene (p.Tyr419*). While this is not anticipated to result in nonsense mediated … (more)
Pathogenic
(Jan 07, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000680494.1
Submitted: (Sep 25, 2021)
Evidence details
Comment:
Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 3 amino acids are lost; Has not been previously published as … (more)
Likely pathogenic
(Dec 26, 2018)
no assertion criteria provided
Method: clinical testing
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000798782.2
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (2)

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
Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants. Koster KL Journal of inherited metabolic disease 2014 PMID: 24966162
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. Arnold GL Molecular genetics and metabolism 2010 PMID: 20036593

Text-mined citations for rs753928772...

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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 27, 2021