U.S. flag

An official website of the United States government

NM_000018.4(ACADVL):c.513C>G (p.Asp171Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 27, 2023
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:
RCV003396813.1

Allele description [Variation Report for NM_000018.4(ACADVL):c.513C>G (p.Asp171Glu)]

NM_000018.4(ACADVL):c.513C>G (p.Asp171Glu)

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.513C>G (p.Asp171Glu)
HGVS:
  • NC_000017.11:g.7221573C>G
  • NG_007975.1:g.6740C>G
  • NG_008391.2:g.3478G>C
  • NM_000018.4:c.513C>GMANE SELECT
  • NM_001033859.3:c.447C>G
  • NM_001270447.2:c.582C>G
  • NM_001270448.2:c.285C>G
  • NP_000009.1:p.Asp171Glu
  • NP_001029031.1:p.Asp149Glu
  • NP_001257376.1:p.Asp194Glu
  • NP_001257377.1:p.Asp95Glu
  • NC_000017.10:g.7124892C>G
  • NM_000018.3:c.513C>G
Protein change:
D149E
Links:
dbSNP: rs2071227581
NCBI 1000 Genomes Browser:
rs2071227581
Molecular consequence:
  • NM_000018.4:c.513C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001033859.3:c.447C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270447.2:c.582C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270448.2:c.285C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004122232Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Oct 27, 2023) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004122232.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant summary: ACADVL c.513C>G (p.Asp171Glu) results in a conservative amino acid change located in the Acyl-CoA dehydrogenase/oxidase, N terminal domain (IPR013786) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251470 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.513C>G has been reported in the literature in at-least one newborn diagnosed with Very Long Chain Acyl-CoA Dehydrogenase Deficiency with a non-informative genotype (Hesse_2018). This report does not provide unequivocal conclusions about association of the variant with Very Long Chain Acyl-CoA Dehydrogenase Deficiency. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 30194637). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 25, 2023