NM_000018.4(ACADVL):c.1733T>C (p.Met578Thr) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Dec 8, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000723595.2

Allele description [Variation Report for NM_000018.4(ACADVL):c.1733T>C (p.Met578Thr)]

NM_000018.4(ACADVL):c.1733T>C (p.Met578Thr)

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.1733T>C (p.Met578Thr)
Other names:
p.M578T:ATG>ACG
HGVS:
  • NC_000017.11:g.7224696T>C
  • NG_007975.1:g.9863T>C
  • NM_000018.4:c.1733T>C
  • NM_001033859.2:c.1667T>C
  • NM_001270448.1:c.1505T>C
  • NP_000009.1:p.Met578Thr
  • NP_001029031.1:p.Met556Thr
  • NP_001257377.1:p.Met502Thr
  • NC_000017.10:g.7128015T>C
  • NM_000018.2:c.1733T>C
  • NM_000018.3:c.1733T>C
  • NM_001033859.1:c.1667T>C
Protein change:
M502T
Links:
dbSNP: rs375806217
NCBI 1000 Genomes Browser:
rs375806217
Molecular consequence:
  • NM_000018.3:c.1733T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000109740EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Mar 5, 2013)
germlineclinical testing

Citation Link,

SCV000238658GeneDxcriteria provided, single submitter
Uncertain significance
(Dec 1, 2015)
germlineclinical testing

Citation Link,

SCV000884962ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Dec 8, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000109740.8

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

From GeneDx, SCV000238658.13

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

Description

The M578T missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is non-conservative in that a non-polar Methionine residue is replaced by a polar Threonine residue. This change occurs at a highly conserved position in the ACADVL protein. However, in-silico analysis models are not consistent in their predictions of whether M578T is damaging to the ACADVL protein. Therefore, based on the currently available information it is unclear whether M578T is a disease-causing mutation or a rare benign variant. The variant is found in ACADVL panel(s).

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

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000884962.1

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

Last Updated: Apr 17, 2019

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