NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 19, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002531230.2

Allele description [Variation Report for NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)]

NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)

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.227G>A (p.Gly76Glu)

HGVS:

NC_000017.11:g.7220626G>A
NG_007975.1:g.5793G>A
NG_008391.2:g.4425C>T
NG_008391.3:g.4424C>T
NG_135374.1:g.497G>A
NM_000018.4:c.227G>AMANE SELECT
NM_001033859.3:c.161G>A
NM_001270447.2:c.296G>A
NM_001270448.2:c.-2G>A
NP_000009.1:p.Gly76Glu
NP_001029031.1:p.Gly54Glu
NP_001257376.1:p.Gly99Glu
NC_000017.10:g.7123945G>A
NM_000018.2:c.227G>A
NM_000018.3:c.227G>A

Protein change:

G54E

Links:

dbSNP: rs750043368

NCBI 1000 Genomes Browser:

rs750043368

Molecular consequence:

NM_001270448.2:c.-2G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000018.4:c.227G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001033859.3:c.161G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001270447.2:c.296G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003742084	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 19, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 16860141, 30194637 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003742084

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 19, 2022)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry.

Schymik I, Liebig M, Mueller M, Wendel U, Mayatepek E, Strauss AW, Wanders RJ, Spiekerkoetter U.

J Pediatr. 2006 Jul;149(1):128-30.

PubMed [citation]

PMID:: 16860141

The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).

Hesse J, Braun C, Behringer S, Matysiak U, Spiekerkoetter U, Tucci S.

J Inherit Metab Dis. 2018 Nov;41(6):1169-1178. doi: 10.1007/s10545-018-0245-5. Epub 2018 Sep 7.

PubMed [citation]

PMID:: 30194637

Details of each submission

From Ambry Genetics, SCV003742084.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The c.227G>A (p.G76E) alteration is located in exon 4 (coding exon 4) of the ACADVL gene. This alteration results from a G to A substitution at nucleotide position 227, causing the glycine (G) at amino acid position 76 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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		not provided	not provided	not provided	not provided

Last Updated: Jan 19, 2025

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