NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 10, 2020)

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:
RCV000173952.3

Allele description [Variation Report for NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)]

NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)

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.1153C>T (p.Arg385Trp)
HGVS:
  • NC_000017.11:g.7223208C>T
  • NG_007975.1:g.8375C>T
  • NG_008391.2:g.1843G>A
  • NM_000018.4:c.1153C>TMANE SELECT
  • NM_001033859.3:c.1087C>T
  • NM_001270447.2:c.1222C>T
  • NM_001270448.2:c.925C>T
  • NP_000009.1:p.Arg385Trp
  • NP_001029031.1:p.Arg363Trp
  • NP_001257376.1:p.Arg408Trp
  • NP_001257377.1:p.Arg309Trp
  • NC_000017.10:g.7126527C>T
  • NM_000018.2:c.1153C>T
  • NM_000018.3:c.1153C>T
Protein change:
R309W
Links:
dbSNP: rs745832866
NCBI 1000 Genomes Browser:
rs745832866
Molecular consequence:
  • NM_000018.4:c.1153C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001033859.3:c.1087C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270447.2:c.1222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270448.2:c.925C>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
SCV000225144EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Apr 23, 2015)
germlineclinical testing

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

Citation Link,

SCV001777338GeneDxcriteria provided, single submitter
Uncertain significance
(Sep 10, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.

Boneh A, Andresen BS, Gregersen N, Ibrahim M, Tzanakos N, Peters H, Yaplito-Lee J, Pitt JJ.

Mol Genet Metab. 2006 Jun;88(2):166-70. Epub 2006 Feb 20.

PubMed [citation]
PMID:
16488171

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000225144.5

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

From GeneDx, SCV001777338.1

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

Description

Reported previously in the presence of a second ACADVL variant in two individuals with abnormal newborn screen results who were not reported to be affected (Boneh et al., 2006; Merinero et al., 2017); Reported in the presence of a second ACADVL variant in an individual with mild intellectual disability and sporadic choreo-athetoid movements, who also complained of recurrent episodes of rhabdomyolysis triggered by exercise. A second molecular diagnosis was established that partially explained his phenotype (Musumeci et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 15210884, 32655480, 23798014, 26385305, 25655073, 27246109, 16488171, 28755359)

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

Last Updated: Nov 27, 2021

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