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

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Dec 8, 2017
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000723595.19

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
NG_008391.2:g.355A>G
NG_033038.1:g.14849A>G
NM_000018.4:c.1733T>CMANE SELECT
NM_001033859.3:c.1667T>C
NM_001270447.2:c.1802T>C
NM_001270448.2:c.1505T>C
NP_000009.1:p.Met578Thr
NP_000009.1:p.Met578Thr
NP_001029031.1:p.Met556Thr
NP_001257376.1:p.Met601Thr
NP_001257377.1:p.Met502Thr
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
NM_001270448.1:c.1505T>C

Protein change:

M502T

Links:

dbSNP: rs375806217

NCBI 1000 Genomes Browser:

rs375806217

Molecular consequence:

NM_000018.4:c.1733T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001033859.3:c.1667T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001270447.2:c.1802T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001270448.2:c.1505T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000109740	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Mar 5, 2013)	germline	clinical testing	Citation Link,
SCV000238658	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Dec 1, 2015)	germline	clinical testing	Citation Link,
SCV000884962	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Dec 8, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000109740

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Mar 5, 2013)

germline

clinical testing

Citation Link,

SCV000238658

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Dec 1, 2015)

germline

clinical testing

Citation Link,

SCV000884962

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Dec 8, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000109740.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From GeneDx, SCV000238658.13

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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