VCV000424746.2 - ClinVar

NM_014049.4(ACAD9):c.[1594C>T];[359delT]

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(1)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Pathogenic

no assertion criteria provided

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

This genotype includes the following variants

NM_014049.4(ACAD9):c.[1594C>T];[359delT]

Other names: -
Functional consequence: -
Links: -

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
ACAD9		-	-	GRCh38 GRCh37	-	-
CFAP92	-	-	-	GRCh38 GRCh37	-	-

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Acyl-CoA dehydrogenase 9 deficiency	Pathogenic (1)	no assertion criteria provided	Aug 25, 2015	RCV000201606.4

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (Aug 25, 2015)	no assertion criteria provided Method: clinical testing	cardiac hypertrophy (Autosomal recessive inheritance) Affected status: yes Allele origin: germline	Institut IMAGINE, Institut National de la Sante et de la Recherche Medicale Accession: SCV000255968.2 First in ClinVar: Nov 09, 2015 Last updated: Nov 09, 2015 Comment: NM_014049.4: c.359delT is reported to be of paternal origin, whereas NM_014049.4: c.1594C>Tis of maternal origin.	Comment: predicted to be deleterious using three different prediction softwares, namely SIFT, MutationTaster and Polyphen-2 Number of individuals with the variant: 1 Clinical Features: Cardiac hypertrophy (present) , Hyperlactatemia (present) Indication for testing: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency Family history: yes Sex: female Geographic origin: Portugal

Germline Functional Evidence

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 germline classification of this variant

Title	Author	Journal	Year	Link
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.	Barbosa-Gouveia S	Genes	2021	PMID: 34440436
Optic neuropathy linked to ACAD9 pathogenic variants: A potentially riboflavin-responsive disorder?	Gueguen N	Mitochondrion	2021	PMID: 34023438
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?	Repp BM	Orphanet journal of rare diseases	2018	PMID: 30025539
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?	Repp BM	Orphanet journal of rare diseases	2018	PMID: 30025539
Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation.	Fragaki K	Molecular genetics and metabolism	2017	PMID: 28529009
High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.	Collet M	European journal of human genetics : EJHG	2016	PMID: 26669660
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.	Schiff M	Human molecular genetics	2015	PMID: 25721401
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.	Schiff M	Human molecular genetics	2015	PMID: 25721401
Clinical exome sequencing for genetic identification of rare Mendelian disorders.	Lee H	JAMA	2014	PMID: 25326637
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.	Haack TB	Journal of medical genetics	2012	PMID: 22499348
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.	Gerards M	Brain : a journal of neurology	2011	PMID: 20929961
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.	Haack TB	Nature genetics	2010	PMID: 21057504
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Text-mined citations for this variant ...

Record last updated Sep 29, 2024

ClinVar Genomic variation as it relates to human health

NM_014049.4(ACAD9):c.[1594C>T];[359delT]

Variant Details

NM_014049.4(ACAD9):c.[1594C>T];[359delT]

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...