NM_000018.4(ACADVL):c.343del AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 12, 2018
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000077915.9

Allele description [Variation Report for NM_000018.4(ACADVL):c.343del]

NM_000018.4(ACADVL):c.343del

Gene:

ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000018.4(ACADVL):c.343del

Other names:

ACADVL, 135-BP DEL; NM_000018.2(ACADVL):c.343delG; p.Glu115Lysfs

HGVS:

NC_000017.11:g.7220924del
NG_007975.1:g.6091del
NG_008391.2:g.4128del
NM_000018.4:c.343delMANE SELECT
XR_934023.2:n.402del
NC_000017.10:g.7124242del
NC_000017.10:g.7124243del
NC_000017.10:g.7124243del
NC_000017.11:g.7220924del
NM_000018.2:c.343delG
NM_000018.3:c.343del
NM_000018.3:c.343delG
NM_000018.4:c.343delGMANE SELECT

Links:

OMIM: 609575.0004; OMIM: 609575.0005; dbSNP: rs387906249

NCBI 1000 Genomes Browser:

rs387906249

Molecular consequence:

NM_000018.4:c.343del - splice acceptor variant - [Sequence Ontology: SO:0001574]

Functional consequence:

exon loss [PubMedVariation Ontology: 0381]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000231447	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions)	Pathogenic (Mar 18, 2013)	germline	clinical testing	Citation Link,
SCV000576837	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Sep 12, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000231447

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions)

Pathogenic
(Mar 18, 2013)

germline

clinical testing

Citation Link,

SCV000576837

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Sep 12, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000231447.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From GeneDx, SCV000576837.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.343delG variant in the ACADVL gene has been reported previously in association with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (Strauss et al., 1995; Ndukwe et al., 2013; Evans et al., 2016). The c.343delG variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.343delG variant causes a frameshift starting with codon Glutamic Acid 115, changes this amino acid to a Lysine residue and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Glu115LysfsX2. The c.343delG variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret c.343delG as pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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