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

Clinical significance:Uncertain significance (Last evaluated: Mar 8, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000186009.4

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
  • 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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000238971GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 8, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000238971.9

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 16, 2021

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