NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) AND Very long chain acyl-CoA dehydrogenase deficiency

Clinical significance:Uncertain significance (Last evaluated: Mar 8, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000673223.1

Allele description [Variation Report for NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg)]

NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg)

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.1328T>G (p.Met443Arg)
HGVS:
  • NC_000017.11:g.7223871T>G
  • NG_007975.1:g.9038T>G
  • NM_000018.4:c.1328T>G
  • NM_001270448.1:c.1100T>G
  • NP_000009.1:p.Met443Arg
  • NP_001257377.1:p.Met367Arg
  • NC_000017.10:g.7127190T>G
  • NM_000018.3:c.1328T>G
Protein change:
M367R
Links:
dbSNP: rs886043236
NCBI 1000 Genomes Browser:
rs886043236
Molecular consequence:
  • NM_000018.3:c.1328T>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000798401Counsylcriteria provided, single submitter
Uncertain significance
(Mar 8, 2018)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.

Schiff M, Mohsen AW, Karunanidhi A, McCracken E, Yeasted R, Vockley J.

Mol Genet Metab. 2013 May;109(1):21-7. doi: 10.1016/j.ymgme.2013.02.002. Epub 2013 Feb 13.

PubMed [citation]
PMID:
23480858
PMCID:
PMC3628282

Details of each submission

From Counsyl, SCV000798401.1

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

Last Updated: Mar 30, 2019

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