NM_000016.6(ACADM):c.2T>G (p.Met1Arg) AND Medium-chain acyl-coenzyme A dehydrogenase deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 17, 2023
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:: RCV003504500.2

Allele description [Variation Report for NM_000016.6(ACADM):c.2T>G (p.Met1Arg)]

NM_000016.6(ACADM):c.2T>G (p.Met1Arg)

Gene:

ACADM:acyl-CoA dehydrogenase medium chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.1

Genomic location:

Preferred name:

NM_000016.6(ACADM):c.2T>G (p.Met1Arg)

HGVS:

NC_000001.11:g.75724789T>G
NG_007045.2:g.5432T>G
NG_163821.1:g.235T>G
NG_163822.1:g.55T>G
NM_000016.6:c.2T>GMANE SELECT
NM_001127328.3:c.2T>G
NM_001286042.2:c.-19T>G
NM_001286043.2:c.2T>G
NM_001286044.2:c.-296T>G
NP_000007.1:p.Met1Arg
NP_000007.1:p.Met1Arg
NP_001120800.1:p.Met1Arg
NP_001272972.1:p.Met1Arg
LRG_838t1:c.2T>G
LRG_838:g.5432T>G
LRG_838p1:p.Met1Arg
NC_000001.10:g.76190474T>G
NM_000016.5:c.2T>G

Protein change:

M1R

Molecular consequence:

NM_001286042.2:c.-19T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001286044.2:c.-296T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000016.6:c.2T>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001127328.3:c.2T>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001286043.2:c.2T>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_000016.6:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127328.3:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001286043.2:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Medium-chain acyl-coenzyme A dehydrogenase deficiency (ACADMD)
Synonyms:: CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY; MCADD; Medium chain acyl-CoA dehydrogenase deficiency
Identifiers:: MONDO: MONDO:0008721; MedGen: C0220710; Orphanet: 42; OMIM: 201450

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004292337	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 17, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 23028790, 30675864, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004292337

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 17, 2023)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants.

Sturm M, Herebian D, Mueller M, Laryea MD, Spiekerkoetter U.

PLoS One. 2012;7(9):e45110. doi: 10.1371/journal.pone.0045110. Epub 2012 Sep 17.

PubMed [citation]

PMID:: 23028790
PMCID:: PMC3444485

[Medium-chain acyl-CoA dehydrogenase deficiency: neonatal screening and follow-uP].

Tong F, Jiang PP, Yang RL, Huang XL, Zhou XL, Hong F, Qian GL, Zhao ZY, Shu Q.

Zhongguo Dang Dai Er Ke Za Zhi. 2019 Jan;21(1):52-57. Chinese.

PubMed [citation]

PMID:: 30675864
PMCID:: PMC7390178

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004292337.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change affects the initiator methionine of the ACADM mRNA. The next in-frame methionine is located at codon 87. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with medium-chain acyl-coenzyme A dehydrogenase deficiency (PMID: 23028790, 30675864). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic.

#	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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