NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) AND not provided

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Apr 1, 2021
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:: RCV000186003.12

Allele description [Variation Report for NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)]

NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)

Gene:

MCCC2:methylcrotonyl-CoA carboxylase subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q13.2

Genomic location:

Preferred name:

NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)

Other names:

p.L355F:TTA>TTT

HGVS:

NC_000005.10:g.71641068A>T
NG_008882.1:g.58781A>T
NM_001363147.1:c.951A>T
NM_022132.5:c.1065A>TMANE SELECT
NP_001350076.1:p.Leu317Phe
NP_071415.1:p.Leu355Phe
NC_000005.9:g.70936895A>T
NM_022132.4:c.1065A>T
Q9HCC0:p.Leu355Phe

Protein change:

L317F

Links:

UniProtKB: Q9HCC0#VAR_072528; dbSNP: rs757052602

Molecular consequence:

NM_001363147.1:c.951A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_022132.5:c.1065A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000238963	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Apr 1, 2021)	germline	clinical testing	Citation Link,
SCV000854812	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely pathogenic (Oct 17, 2017)	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

SCV000238963

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Apr 1, 2021)

germline

clinical testing

Citation Link,

SCV000854812

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Likely pathogenic
(Oct 17, 2017)

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	4	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

Citations

PubMed

Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.

Nguyen KV, Naviaux RK, Patra S, Barshop BA, Nyhan WL.

Mol Genet Metab. 2011 Feb;102(2):218-21. doi: 10.1016/j.ymgme.2010.10.008. Epub 2010 Oct 20.

PubMed [citation]

PMID:: 21071250

Details of each submission

From GeneDx, SCV000238963.15

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

Description

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: 25356967, 22642865, 27033733, 21071250)

#	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 Eurofins Ntd Llc (ga), SCV000854812.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	PubMed (1)

#	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		4	not provided	not provided	not provided

Last Updated: Apr 12, 2026

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