NM_000018.3(ACADVL):c.1837C>T (p.Arg613Trp) AND not specified

Clinical significance:Pathogenic (Last evaluated: Nov 27, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000507731.1

Allele description [Variation Report for NM_000018.3(ACADVL):c.1837C>T (p.Arg613Trp)]

NM_000018.3(ACADVL):c.1837C>T (p.Arg613Trp)

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.1837C>T (p.Arg613Trp)
Other names:
p.R613W:CGG>TGG
HGVS:
  • NC_000017.11:g.7224966C>T
  • NG_007975.1:g.10133C>T
  • NM_000018.3:c.1837C>T
  • NM_001033859.2:c.1771C>T
  • NM_001270448.1:c.1609C>T
  • NP_000009.1:p.Arg613Trp
  • NP_001029031.1:p.Arg591Trp
  • NP_001257377.1:p.Arg537Trp
  • NC_000017.10:g.7128285C>T
  • NM_000018.2:c.1837C>T
  • NM_001033859.1:c.1771C>T
  • P49748:p.Arg613Trp
Protein change:
R537W; ARG613TRP
Links:
UniProtKB: P49748#VAR_000365; OMIM: 609575.0003; dbSNP: rs118204014
NCBI 1000 Genomes Browser:
rs118204014
Molecular consequence:
  • NM_000018.3:c.1837C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000602366ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Pathogenic
(Nov 27, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000602366.1

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

Last Updated: Mar 30, 2019

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