NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) AND not provided

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Apr 13, 2021
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:: RCV000077903.25

Allele description [Variation Report for NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)]

NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)

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.1322G>A (p.Gly441Asp)

Other names:

G401D; NM_000018.4(ACADVL):c.1322G>A

HGVS:

NC_000017.11:g.7223865G>A
NG_007975.1:g.9032G>A
NG_008391.2:g.1186C>T
NG_033038.1:g.15680C>T
NM_000018.4:c.1322G>AMANE SELECT
NM_001033859.3:c.1256G>A
NM_001270447.2:c.1391G>A
NM_001270448.2:c.1094G>A
NP_000009.1:p.Gly441Asp
NP_000009.1:p.Gly441Asp
NP_001029031.1:p.Gly419Asp
NP_001257376.1:p.Gly464Asp
NP_001257377.1:p.Gly365Asp
NP_001257377.1:p.Gly365Asp
NC_000017.10:g.7127184G>A
NM_000018.3:c.1322G>A
NM_001270448.1:c.1094G>A
P49748:p.Gly441Asp

Protein change:

G365D; GLY401ASP

Links:

UniProtKB: P49748#VAR_000354; OMIM: 609575.0009; dbSNP: rs2309689

NCBI 1000 Genomes Browser:

rs2309689

Molecular consequence:

NM_000018.4:c.1322G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001033859.3:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001270447.2:c.1391G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001270448.2:c.1094G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000225740	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions)	Pathogenic (May 3, 2013)	germline	clinical testing	Citation Link,
SCV000280823	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 18, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001824991	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Nov 13, 2019)	germline	clinical testing	Citation Link,
SCV002525837	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 13, 2021)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 31031081, 30194637, 32061778, 16488171, 25525159, 20060901, 8845838, 25741868

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	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	7	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.

Rovelli V, Manzoni F, Viau K, Pasquali M, Longo N.

Mol Genet Metab. 2019 May;127(1):64-73. doi: 10.1016/j.ymgme.2019.04.001. Epub 2019 Apr 16.

PubMed [citation]

PMID:: 31031081

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

See all PubMed Citations (8)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000225740.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	7	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		7	not provided	not provided	not provided

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000280823.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	not provided	not provided	not provided	not provided		not provided	0.000069	not provided	not provided

From GeneDx, SCV001824991.1

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

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 8845838, 25525159, 16288870, 16443431, 31031081, 20060901, 17999356, 23867825, 16488171, 9546340, 26453363, 23757202, 27246109, 11158518, 20301763, 21378393)

#	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

From Mayo Clinic Laboratories, Mayo Clinic, SCV002525837.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (8)

Description

PS3, PS4, PM2, PM3, PP4

#	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: Apr 15, 2024

ClinVar

Relating variation to medicine