NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) AND Primary dilated cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Nov 16, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000208321.1

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)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Congestive cardiomyopathy
Identifiers:
EFO: EFO_0000407; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000263752Blueprint Genetics,criteria provided, single submitter
Uncertain significance
(Nov 16, 2015)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.

Hoffmann L, Haussmann U, Mueller M, Spiekerkoetter U.

J Inherit Metab Dis. 2012 Mar;35(2):269-77. doi: 10.1007/s10545-011-9391-8. Epub 2011 Sep 20.

PubMed [citation]
PMID:
21932095

Details of each submission

From Blueprint Genetics,, SCV000263752.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2019

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