NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg) AND not provided

Clinical significance:Pathogenic (Last evaluated: Nov 20, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)]

NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)

MMUT:methylmalonyl-CoA mutase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)
  • NC_000006.12:g.49440295C>T
  • NG_007100.1:g.27845G>A
  • NM_000255.4:c.1867G>AMANE SELECT
  • NP_000246.2:p.Gly623Arg
  • NC_000006.11:g.49408008C>T
  • NM_000255.1:c.1867G>A
  • NP_000246.1:p.Gly623Arg
  • P22033:p.Gly623Arg
Protein change:
G623R; GLY623ARG
UniProtKB: P22033#VAR_004420; OMIM: 609058.0008; dbSNP: rs121918254
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000255.4:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000520995GeneDxcriteria provided, single submitter
(Nov 20, 2019)
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, SCV000520995.4

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


Reported to be a common variant in individuals of African descent and functional analysis of G623R found that it is associated with significantly reduced enzyme activity compared to wild-type (Worgan et al., 2006; Janata et al., 1997).; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 15643616, 7909321, 19375370, 17113806, 31525265, 25087612, 9285782, 8990001, 16281286)

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

Last Updated: Nov 27, 2021

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