NM_000018.3(ACADVL):c.1844G>A (p.Arg615Gln) AND Very long chain acyl-CoA dehydrogenase deficiency

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Likely pathogenic(1);Uncertain significance(1) (Last evaluated: Dec 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000193309.4

Allele description [Variation Report for NM_000018.3(ACADVL):c.1844G>A (p.Arg615Gln)]

NM_000018.3(ACADVL):c.1844G>A (p.Arg615Gln)

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.1844G>A (p.Arg615Gln)
Other names:
p.R615Q:CGA>CAA
HGVS:
  • NC_000017.11:g.7224973G>A
  • NG_007975.1:g.10140G>A
  • NM_000018.2:c.1844G>A
  • NM_000018.3:c.1844G>A
  • NM_001270448.1:c.1616G>A
  • NP_000009.1:p.Arg615Gln
  • NP_001257377.1:p.Arg539Gln
  • NC_000017.10:g.7128292G>A
  • P49748:p.Arg615Gln
  • p.R615Q
Protein change:
R539Q
Links:
UniProtKB: P49748#VAR_010106; dbSNP: rs148584617
NCBI 1000 Genomes Browser:
rs148584617
Molecular consequence:
  • NM_000018.3:c.1844G>A - 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
SCV000223917Knight Diagnostic Laboratories,Oregon Health and Sciences Universitycriteria provided, single submitter
Likely pathogenic
(Oct 13, 2014)
germlineclinical testing

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

SCV000654946Invitaecriteria provided, single submitter
Likely benign
(Dec 27, 2017)
germlineclinical testing

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

SCV000782653Mayo Clinic Genetic Testing Laboratories,Mayo Cliniccriteria provided, single submitter
Uncertain significance
(Jun 1, 2017)
maternalclinical testing

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

Summary from all submissions

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

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

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
See all PubMed Citations (3)

Details of each submission

From Knight Diagnostic Laboratories,Oregon Health and Sciences University, SCV000223917.1

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

From Invitae, SCV000654946.2

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

From Mayo Clinic Genetic Testing Laboratories,Mayo Clinic, SCV000782653.1

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

Last Updated: Apr 17, 2019

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