NM_000018.3(ACADVL):c.1605+6T>C AND Very long chain acyl-CoA dehydrogenase deficiency

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

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:
RCV000169539.2

Allele description [Variation Report for NM_000018.3(ACADVL):c.1605+6T>C]

NM_000018.3(ACADVL):c.1605+6T>C

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.1605+6T>C
HGVS:
  • NC_000017.11:g.7224399T>C
  • NG_007975.1:g.9566T>C
  • NM_000018.3:c.1605+6T>C
  • NM_001270448.1:c.1377+6T>C
  • NC_000017.10:g.7127718T>C
  • NM_000018.2:c.1605+6T>C
Links:
dbSNP: rs17671352
NCBI 1000 Genomes Browser:
rs17671352
Molecular consequence:
  • NM_000018.3:c.1605+6T>C - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000221021Counsylcriteria provided, single submitter
Benign
(Jan 13, 2015)
unknownliterature only

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

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015),

Citation Link,

SCV000406328Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Citations

PubMed

Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation.

Shchelochkov O, Wong LJ, Shaibani A, Shinawi M.

Muscle Nerve. 2009 Mar;39(3):374-82. doi: 10.1002/mus.21157.

PubMed [citation]
PMID:
19208414

Details of each submission

From Counsyl, SCV000221021.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Illumina Clinical Services Laboratory,Illumina, SCV000406328.2

#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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