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:
current
Accession:
RCV000427444.2

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

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

Gene:
MMUT:methylmalonyl-CoA mutase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p12.3
Genomic location:
Preferred name:
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)
HGVS:
  • 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
Links:
UniProtKB: P22033#VAR_004420; OMIM: 609058.0008; dbSNP: rs121918254
NCBI 1000 Genomes Browser:
rs121918254
Molecular consequence:
  • NM_000255.4:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000520995GeneDxcriteria provided, single submitter
Pathogenic
(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

Description

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)

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

Last Updated: Nov 27, 2021

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