NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 14, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV004526976.2

Allele description [Variation Report for NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr)]

NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr)

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.1055T>C (p.Met352Thr)

HGVS:

NC_000017.11:g.7222843T>C
NG_007975.1:g.8010T>C
NG_008391.2:g.2208A>G
NG_008391.3:g.2207A>G
NM_000018.4:c.1055T>CMANE SELECT
NM_001033859.3:c.989T>C
NM_001270447.2:c.1124T>C
NM_001270448.2:c.827T>C
NP_000009.1:p.Met352Thr
NP_001029031.1:p.Met330Thr
NP_001257376.1:p.Met375Thr
NP_001257377.1:p.Met276Thr
NC_000017.10:g.7126162T>C

Protein change:

M276T

Molecular consequence:

NM_000018.4:c.1055T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001033859.3:c.989T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001270447.2:c.1124T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001270448.2:c.827T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005040294	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Mar 14, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005040294

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Mar 14, 2024)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies.

Lin Y, Zhang W, Chen D, Lin C, Zheng Z, Fu Q, Li M, Peng W.

Clin Chim Acta. 2020 Nov;510:285-290. doi: 10.1016/j.cca.2020.07.038. Epub 2020 Jul 22.

PubMed [citation]

PMID:: 32710939

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005040294.2

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

Description

Variant summary: ACADVL c.1055T>C (p.Met352Thr) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250952 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1055T>C has been reported in the literature in the compound heterozygous state in an individual affected with Very Long Chain Acyl-CoA Dehydrogenase Deficiency (Lin_2020). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 32710939). ClinVar contains an entry for this variant (Variation ID: 2438819). Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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: Sep 29, 2024

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