NM_000018.3(ACADVL):c.1375dup AND Very long chain acyl-CoA dehydrogenase deficiency

Clinical significance:Pathogenic (Last evaluated: May 24, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000538432.2

Allele description [Variation Report for NM_000018.3(ACADVL):c.1375dup]

NM_000018.3(ACADVL):c.1375dup

Gene:
ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000018.3(ACADVL):c.1375dup
HGVS:
  • NG_007975.1:g.9177dup
  • NM_000018.3:c.1375dup
  • NP_000009.1:p.Arg459Profs
  • NC_000017.10:g.7127329dup
  • NC_000017.11:g.7224010dup
  • NM_000018.2:c.1375dupC
  • NM_000018.3:c.1375dupC
  • p.R459PfsX4
Links:
dbSNP: rs796051916
NCBI 1000 Genomes Browser:
rs796051916
Molecular consequence:
  • NM_000018.3:c.1375dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000654931Invitaecriteria provided, single submitter
Pathogenic
(May 24, 2017)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000654931.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change inserts 1 nucleotide in exon 14 of the ACADVL mRNA (c.1375dupC), causing a frameshift at codon 459. This creates a premature translational stop signal (p.Arg459Profs*4) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACADVL are known to be pathogenic. This particular variant has been reported in the literature  in individuals with suspected very long chain acyl-coA dehydrogenase deficiency after positive new born screening (PMID: 26385305). ClinVar contains an entry for this variant (Variation ID: 203592). This variant is also known as c.1375_1376insC in the literature. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Mar 30, 2019

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