NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Sep 10, 2020
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:: RCV000173952.6

Allele description [Variation Report for NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)]

NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)

HGVS:

NC_000017.11:g.7223208C>T
NG_007975.1:g.8375C>T
NG_008391.2:g.1843G>A
NM_000018.4:c.1153C>TMANE SELECT
NM_001033859.3:c.1087C>T
NM_001270447.2:c.1222C>T
NM_001270448.2:c.925C>T
NP_000009.1:p.Arg385Trp
NP_001029031.1:p.Arg363Trp
NP_001257376.1:p.Arg408Trp
NP_001257377.1:p.Arg309Trp
NC_000017.10:g.7126527C>T
NM_000018.2:c.1153C>T
NM_000018.3:c.1153C>T

Protein change:

R309W

Links:

dbSNP: rs745832866

NCBI 1000 Genomes Browser:

rs745832866

Molecular consequence:

NM_000018.4:c.1153C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001033859.3:c.1087C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001270447.2:c.1222C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001270448.2:c.925C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Homo sapiens myelin expression factor 2 (MYEF2), mRNA
Homo sapiens myelin expression factor 2 (MYEF2), mRNA
gi|33620746|ref|NM_016132.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000225144	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Apr 23, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV001777338	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Sep 10, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000225144

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Apr 23, 2015)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV001777338

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Sep 10, 2020)

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

Citations

PubMed

VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.

Boneh A, Andresen BS, Gregersen N, Ibrahim M, Tzanakos N, Peters H, Yaplito-Lee J, Pitt JJ.

Mol Genet Metab. 2006 Jun;88(2):166-70. Epub 2006 Feb 20.

PubMed [citation]

PMID:: 16488171

Details of each submission

From Eurofins Ntd Llc (ga), SCV000225144.5

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

#	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, SCV001777338.1

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

Description

Reported previously in the presence of a second ACADVL variant in two individuals with abnormal newborn screen results who were not reported to be affected (Boneh et al., 2006; Merinero et al., 2017); Reported in the presence of a second ACADVL variant in an individual with mild intellectual disability and sporadic choreo-athetoid movements, who also complained of recurrent episodes of rhabdomyolysis triggered by exercise. A second molecular diagnosis was established that partially explained his phenotype (Musumeci et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 15210884, 32655480, 23798014, 26385305, 25655073, 27246109, 16488171, 28755359)

#	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: Oct 8, 2024

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