NM_032601.4(MCEE):c.178A>C (p.Lys60Gln) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 8, 2017
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:: RCV000186009.12

Allele description [Variation Report for NM_032601.4(MCEE):c.178A>C (p.Lys60Gln)]

NM_032601.4(MCEE):c.178A>C (p.Lys60Gln)

Gene:

MCEE:methylmalonyl-CoA epimerase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.3

Genomic location:

Preferred name:

NM_032601.4(MCEE):c.178A>C (p.Lys60Gln)

Other names:

p.K60Q:AAG>CAG

HGVS:

NC_000002.12:g.71124406T>G
NG_008977.1:g.10859A>C
NM_032601.4:c.178A>CMANE SELECT
NP_115990.3:p.Lys60Gln
NC_000002.11:g.71351536T>G
NM_032601.3:c.178A>C

Protein change:

K60Q

Links:

dbSNP: rs147401037

NCBI 1000 Genomes Browser:

rs147401037

Molecular consequence:

NM_032601.4:c.178A>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
SCV000238971	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Mar 8, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000238971

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Mar 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000238971.9

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

Description

The K60Q variant in the MCEE gene has been reported previously as homozygous in a patient with methylmalonic aciduria (Gradinger et al., 2007). Gradinger et al. reported K60Q in a three year old patient with elevated methylmalonic acid excretion who presented with ataxia, deteriorated motor function, dysarthria, and mild spastic paraparesis. This variant is a non-conservative amino acid substitution of a positively charged Lysine with a neutral, polar Glutamine at a residue that is conserved in mammals. In silico analysis was inconsistent with regard to the effect this variant may have on the protein structure/function. We interpret K60Q as a variant of uncertain significance.

#	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

Last Updated: May 7, 2024

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