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NM_000016.5(ACADM):c.734C>T (p.Ser245Leu)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Feb 6, 2020)
Last evaluated:
Nov 5, 2019
Accession:
VCV000003598.3
Variation ID:
3598
Description:
single nucleotide variant
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NM_000016.5(ACADM):c.734C>T (p.Ser245Leu)

Allele ID
18637
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 75749444 (GRCh38) GRCh38 UCSC
1: 76215129 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P11310:p.Ser245Leu
LRG_838:g.30087C>T
NC_000001.10:g.76215129C>T
... more HGVS
Protein change
S245L, S249L, S209L, S278L, S56L
Other names
S220L
Canonical SPDI
NC_000001.11:75749443:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA220186
UniProtKB: P11310#VAR_013699
OMIM: 607008.0012
dbSNP: rs121434281
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 3 criteria provided, multiple submitters, no conflicts Nov 5, 2019 RCV000003781.5
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Nov 15, 2016 RCV000077894.7
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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
457 485

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 05, 2017)
criteria provided, single submitter
Method: clinical testing
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000792652.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (5)
Pathogenic
(Nov 05, 2019)
criteria provided, single submitter
Method: clinical testing
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Allele origin: germline
Invitae
Accession: SCV001199349.1
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces serine with leucine at codon 245 of the ACADM protein (p.Ser245Leu). The serine residue is highly conserved and there is a … (more)
Likely pathogenic
(Nov 15, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000511934.2
Submitted: (Jul 13, 2017)
Evidence details
Comment:
The S245L missense variant in the ACADM gene has been reported previously in a patient who was homozygous for the S245L variant and who was … (more)
Pathogenic
(Jul 20, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000511259.1
Submitted: (Feb 17, 2017)
Evidence details
Pathogenic
(Aug 19, 2013)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000232889.5
Submitted: (Jun 30, 2017)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(May 01, 2001)
no assertion criteria provided
Method: literature only
MCAD DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000023946.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes. Touw CM Orphanet journal of rare diseases 2013 PMID: 23509891
Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: identification of a novel variant. Thodi G Clinical biochemistry 2012 PMID: 22683754
Quantitative liquid chromatography coupled with tandem mass spectrometry analysis of urinary acylglycines: application to the diagnosis of inborn errors of metabolism. Ombrone D Analytical biochemistry 2011 PMID: 21704015
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
Molecular and functional characterisation of mild MCAD deficiency. Zschocke J Human genetics 2001 PMID: 11409868
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ACADM - - - -

Text-mined citations for rs121434281...

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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 Sep 18, 2021