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NM_000018.4(ACADVL):c.1966T>A (p.Ter656Arg) AND Very long chain acyl-CoA dehydrogenase deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 23, 2022
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002286682.2

Allele description [Variation Report for NM_000018.4(ACADVL):c.1966T>A (p.Ter656Arg)]

NM_000018.4(ACADVL):c.1966T>A (p.Ter656Arg)

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.1966T>A (p.Ter656Arg)
HGVS:
  • NC_000017.11:g.7225095T>A
  • NG_007975.1:g.10262T>A
  • NG_033038.1:g.14450A>T
  • NM_000018.4:c.1966T>AMANE SELECT
  • NM_001033859.3:c.1900T>A
  • NM_001270447.2:c.2035T>A
  • NM_001270448.2:c.1738T>A
  • NP_000009.1:p.Ter656Arg
  • NP_001029031.1:p.Ter634Arg
  • NP_001257376.1:p.Ter679Arg
  • NP_001257377.1:p.Ter580Arg
  • NC_000017.10:g.7128414T>A
Molecular consequence:
  • NM_000018.4:c.1966T>A - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001033859.3:c.1900T>A - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001270447.2:c.2035T>A - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001270448.2:c.1738T>A - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Name:
Very long chain acyl-CoA dehydrogenase deficiency (ACADVLD)
Synonyms:
VLCAD deficiency
Identifiers:
MONDO: MONDO:0008723; MedGen: C3887523; Orphanet: 26793; OMIM: 201475

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002576748ClinGen ACADVL Variant Curation Expert Panel, ClinGen
reviewed by expert panel

(clingen acadvl acmg specifications v1)		Uncertain significance
(Sep 23, 2022) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen ACADVL Variant Curation Expert Panel, ClinGen, SCV002576748.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The c.1966T>A variant in ACADVL is a stop-loss predicted to result in a 32-aa peptide extension at the C-terminus (PM4). This variant has been identified in one individual as a heterozygote identified by abnormal newborn screening results suggestive of very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (PMID: 30194637). This study also showed reduced VLCAD activity in patient lymphocytes, however, this assay does not meet the requirements for use by the ClinGen ACADVL Variant Curation Expert Panel. This variant is absent from gnomAD v2.1.1 (PM2_Supporting).In summary, this variant meets the criteria to be classified as uncertain for autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen ACADVL Variant Curation Expert Panel: (PM4, PM2_Supporting)

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

Last Updated: Apr 23, 2023