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NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (4 submissions)
Last evaluated:
Jan 1, 2022
Review status:
criteria provided, conflicting classifications
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:
RCV000723640.38

Allele description [Variation Report for NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)]

NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)

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.605T>C (p.Leu202Pro)
Other names:
NM_000018.4(ACADVL):c.605T>C
HGVS:
  • NC_000017.11:g.7221665T>C
  • NG_007975.1:g.6832T>C
  • NG_008391.2:g.3386A>G
  • NM_000018.4:c.605T>CMANE SELECT
  • NM_001033859.3:c.539T>C
  • NM_001270447.2:c.674T>C
  • NM_001270448.2:c.377T>C
  • NP_000009.1:p.Leu202Pro
  • NP_000009.1:p.Leu202Pro
  • NP_001029031.1:p.Leu180Pro
  • NP_001257376.1:p.Leu225Pro
  • NP_001257377.1:p.Leu126Pro
  • NP_001257377.1:p.Leu126Pro
  • NC_000017.10:g.7124984T>C
  • NM_000018.2:c.605T>C
  • NM_000018.3:c.605T>C
  • NM_001270448.1:c.377T>C
Protein change:
L126P
Links:
dbSNP: rs398123090
NCBI 1000 Genomes Browser:
rs398123090
Molecular consequence:
  • NM_000018.4:c.605T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001033859.3:c.539T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270447.2:c.674T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270448.2:c.377T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000109750Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(May 21, 2013) 		germlineclinical testing

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

Citation Link,

SCV000602360ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(Oct 26, 2017) 		germlineclinical testing

Citation Link,

SCV001779462GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Mar 12, 2020) 		germlineclinical testing

Citation Link,

SCV002498232CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Jan 1, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown1not 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 Eurofins Ntd Llc (ga), SCV000109750.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000602360.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001779462.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30194637, 23480858)

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

From CeGaT Center for Human Genetics Tuebingen, SCV002498232.18

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024