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NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 21, 2016
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:
RCV000493429.1

Allele description [Variation Report for NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro)]

NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro)

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.533T>C (p.Leu178Pro)
HGVS:
  • NC_000017.11:g.7221593T>C
  • NG_007975.1:g.6760T>C
  • NG_008391.2:g.3458A>G
  • NM_000018.4:c.533T>CMANE SELECT
  • NM_001033859.3:c.467T>C
  • NM_001270447.2:c.602T>C
  • NM_001270448.2:c.305T>C
  • NP_000009.1:p.Leu178Pro
  • NP_001029031.1:p.Leu156Pro
  • NP_001257376.1:p.Leu201Pro
  • NP_001257377.1:p.Leu102Pro
  • NC_000017.10:g.7124912T>C
  • NM_000018.2:c.533T>C
  • NM_000018.3:c.533T>C
Protein change:
L102P
Links:
dbSNP: rs1131691808
NCBI 1000 Genomes Browser:
rs1131691808
Molecular consequence:
  • NM_000018.4:c.533T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001033859.3:c.467T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270447.2:c.602T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270448.2:c.305T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000582888GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Jun 21, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000582888.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The L178P variant has been reported previously, using alternate nomenclature, in an individual who had a positive newborn screening result for very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency in whom a second variant was not identified in the ACADVL gene and in whom residual VLCAD enzyme activity was 33% (Hoffmann et al. 2012). The L178P variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The L178P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and L178 is located in the substrate binding cavity of the VLCAD protein (Hoffmann et al. 2012). In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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

Last Updated: Sep 29, 2024