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

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
5 (Most recent: Sep 25, 2021)
Last evaluated:
Nov 20, 2019
Accession:
VCV000001884.5
Variation ID:
1884
Description:
single nucleotide variant
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NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)

Allele ID
16923
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p12.3
Genomic location
6: 49440295 (GRCh38) GRCh38 UCSC
6: 49408008 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P22033:p.Gly623Arg
NC_000006.11:g.49408008C>T
NC_000006.12:g.49440295C>T
... more HGVS
Protein change
G623R
Other names
-
Canonical SPDI
NC_000006.12:49440294:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA249730
UniProtKB: P22033#VAR_004420
OMIM: 609058.0008
dbSNP: rs121918254
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Nov 20, 2019 RCV000427444.2
Pathogenic 1 no assertion criteria provided Apr 1, 1994 RCV000001961.3
Pathogenic/Likely pathogenic 2 no assertion criteria provided Mar 17, 2017 RCV000203390.2
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Pathogenic 1 no assertion criteria provided Sep 16, 2020 RCV001276633.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MMUT - - GRCh38
GRCh37
587 609

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 20, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000520995.4
Submitted: (Sep 25, 2021)
Evidence details
Comment:
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 … (more)
Pathogenic
(Jan 07, 2016)
no assertion criteria provided
Method: literature only
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Allele origin: germline
GeneReviews
Accession: SCV000258505.1
Submitted: (Jan 07, 2016)
Comment:
mut0 enzymatic subtype
Evidence details
Other databases
http://www.ncbi.nlm.nih.gov/book…
Likely pathogenic
(Mar 17, 2017)
no assertion criteria provided
Method: clinical testing
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Allele origin: unknown
Counsyl
Accession: SCV001132252.1
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (4)
Pathogenic
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Allele origin: germline
Natera, Inc.
Accession: SCV001463085.1
Submitted: (Dec 28, 2020)
Evidence details
Pathogenic
(Apr 01, 1994)
no assertion criteria provided
Method: literature only
METHYLMALONIC ACIDURIA, mut(0) TYPE
Allele origin: germline
OMIM
Accession: SCV000022119.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Isolated Methylmalonic Acidemia Manoli I - 2016 PMID: 20301409
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. Worgan LC Human mutation 2006 PMID: 16281286
Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. Acquaviva C Human mutation 2005 PMID: 15643616
Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation. Janata J Human molecular genetics 1997 PMID: 9285782
Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria. Thomä NH Protein science : a publication of the Protein Society 1996 PMID: 8880917
Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria. Qureshi AA The Journal of clinical investigation 1994 PMID: 7909321
http://www.ncbi.nlm.nih.gov/books/NBK1231/ - - - -

Text-mined citations for rs121918254...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 20, 2021