NM_000018.4(ACADVL):c.1049G>A (p.Gly350Asp) AND Very long chain acyl-CoA dehydrogenase deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 18, 2021
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:: RCV002904000.3

Allele description [Variation Report for NM_000018.4(ACADVL):c.1049G>A (p.Gly350Asp)]

NM_000018.4(ACADVL):c.1049G>A (p.Gly350Asp)

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.1049G>A (p.Gly350Asp)

HGVS:

NC_000017.11:g.7222837G>A
NG_007975.1:g.8004G>A
NG_008391.2:g.2214C>T
NG_008391.3:g.2213C>T
NM_000018.4:c.1049G>AMANE SELECT
NM_001033859.3:c.983G>A
NM_001270447.2:c.1118G>A
NM_001270448.2:c.821G>A
NP_000009.1:p.Gly350Asp
NP_001029031.1:p.Gly328Asp
NP_001257376.1:p.Gly373Asp
NP_001257377.1:p.Gly274Asp
NC_000017.10:g.7126156G>A

Protein change:

G274D

Molecular consequence:

NM_000018.4:c.1049G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001033859.3:c.983G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001270447.2:c.1118G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001270448.2:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Very long chain acyl-CoA dehydrogenase deficiency (ACADVLD)
Synonyms:: VLCAD deficiency
Identifiers:: MONDO: MONDO:0008723; MedGen: C3887523; Orphanet: 26793; OMIM: 201475

Recent activity

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qh08b12.x1 Soares_NFL_T_GBC_S1 Homo sapiens cDNA clone IMAGE:1844063 3', mRNA se...
qh08b12.x1 Soares_NFL_T_GBC_S1 Homo sapiens cDNA clone IMAGE:1844063 3', mRNA sequence
gi|3784524|gnl|dbEST|1986445|gb|AI2 .1|

Nucleotide
AGENCOURT_74301828 NICHD_XGC_limb_m Xenopus laevis cDNA clone IMAGE:8533173 5', ...
AGENCOURT_74301828 NICHD_XGC_limb_m Xenopus laevis cDNA clone IMAGE:8533173 5', mRNA sequence
gi|92073515|gnl|dbEST|38003826|gb|E 85.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003253004	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 18, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003253004

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 18, 2021)

germline

clinical testing

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

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003253004.2

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ACADVL protein function. This variant has not been reported in the literature in individuals affected with ACADVL-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 350 of the ACADVL protein (p.Gly350Asp).

#	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: Sep 29, 2024

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