NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Nov 3, 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:
RCV000185729.3

Allele description [Variation Report for NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)]

NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)

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.1591C>T (p.Arg531Trp)
HGVS:
  • NC_000017.11:g.7224379C>T
  • NG_007975.1:g.9546C>T
  • NM_000018.4:c.1591C>T
  • NM_001270448.1:c.1363C>T
  • NP_000009.1:p.Arg531Trp
  • NP_001257377.1:p.Arg455Trp
  • NC_000017.10:g.7127698C>T
  • NM_000018.3:c.1591C>T
Protein change:
R455W
Links:
dbSNP: rs146379816
NCBI 1000 Genomes Browser:
rs146379816
Molecular consequence:
  • NM_000018.3:c.1591C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000202128EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Nov 25, 2013)
germlineclinical testing

Citation Link,

SCV000884951ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Nov 3, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000202128.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000884951.1

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

Description

The ACADVL c.1591C>T; p.Arg531Trp variant (also known as Arg491Trp) is published in the medical literature in at least two individuals with suspected very long-chain acyl-CoA dehydrogenase deficiency, with one individual carrying an additional pathogenic variant presumed to occur on the opposite chromosome (Ghosh 2017, Hoffmann 2012). The variant is listed in the ClinVar database (Variation ID: 166647), in the dbSNP variant database (rs146379816), in the Exome Variant Server with an allele frequency of 0.0538 percent (7/12999 alleles), and in the Genome Aggregation Consortium with an allele frequency of 0.04416 percent (122/276294 alleles). The arginine at this position is moderately conserved across species and computational algorithms (PolyPhen2, SIFT) predict this variant is deleterious. Considering available information, the clinical significance of this variant cannot be determined with certainty. References: Ghosh A et al. Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing Arch Dis Child. 2017 102:1019-1029. Hoffmann L et al. VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment. J Inherit Metab Dis. 2012 Mar;35(2):269-77.

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

Last Updated: Mar 30, 2019

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