NM_000018.3(ACADVL):c.481G>A (p.Ala161Thr) AND Very long chain acyl-CoA dehydrogenase deficiency

Clinical significance:Uncertain significance (Last evaluated: Dec 28, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000271784.1

Allele description [Variation Report for NM_000018.3(ACADVL):c.481G>A (p.Ala161Thr)]

NM_000018.3(ACADVL):c.481G>A (p.Ala161Thr)

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_000018.3(ACADVL):c.481G>A (p.Ala161Thr)
HGVS:
  • NC_000017.11:g.7221541G>A
  • NG_007975.1:g.6708G>A
  • NM_000018.3:c.481G>A
  • NP_000009.1:p.Ala161Thr
  • NC_000017.10:g.7124860G>A
Protein change:
A161T
Links:
dbSNP: rs375284481
NCBI 1000 Genomes Browser:
rs375284481
Molecular consequence:
  • NM_000018.3:c.481G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000406312Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

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

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV000796763Counsylcriteria provided, single submitter
Uncertain significance
(Dec 28, 2017)
unknownclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.

Merinero B, Alcaide P, Martín-Hernández E, Morais A, García-Silva MT, Quijada-Fraile P, Pedrón-Giner C, Dulin E, Yahyaoui R, Egea JM, Belanger-Quintana A, Blasco-Alonso J, Fernandez Ruano ML, Besga B, Ferrer-López I, Leal F, Ugarte M, Ruiz-Sala P, Pérez B, Pérez-Cerdá C.

JIMD Rep. 2018;39:63-74. doi: 10.1007/8904_2017_40. Epub 2017 Jul 29.

PubMed [citation]
PMID:
28755359
PMCID:
PMC5953901

Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels.

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

Pediatrics. 2006 Sep;118(3):1065-9.

PubMed [citation]
PMID:
16950999
See all PubMed Citations (5)

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000406312.2

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

Description

The 481G>A (p.Ala161Thr) variant has been reported in one study in a compound heterozygous state with another missense variant in one patient (Boneh et al. 2006). The variant was also identified in a heterozygous state in the unaffected father. Control data are unavailable for this variant which is reported at a frequency of 0.00017 in the total population of the Exome Aggregation Consortium. The Ala161 residue is conserved. The evidence for this variant is limited. The p.Ala161Thr variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for VLCAD deficiency.

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

From Counsyl, SCV000796763.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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