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NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 23, 2019
Accession:
VCV000552718.3
Variation ID:
552718
Description:
single nucleotide variant
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NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)

Allele ID
543729
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p12.3
Genomic location
6: 49457774 (GRCh38) GRCh38 UCSC
6: 49425487 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.49425487C>A
NC_000006.12:g.49457774C>A
NG_007100.1:g.10366G>T
NM_000255.4:c.670G>T MANE Select NP_000246.2:p.Glu224Ter nonsense
Protein change
E224*
Other names
-
Canonical SPDI
NC_000006.12:49457773:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1554160638
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Mar 23, 2019 RCV000760390.2
Likely pathogenic 1 criteria provided, single submitter Jul 5, 2017 RCV000668034.3
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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
Likely pathogenic
(Jul 05, 2017)
criteria provided, single submitter
Method: clinical testing
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000792577.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (4)
Pathogenic
(Feb 01, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000890261.1
Submitted: (Mar 13, 2019)
Evidence details
Comment:
The E224X variant has been reported previously in an individual with mut0 MMA who also had a second nonsense variant identified in the MUT gene … (more)
Pathogenic
(Mar 23, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001223502.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Glu224*) in the MUT gene. It is expected to result in an absent or disrupted protein … (more)

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
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Xiong HY Science (New York, N.Y.) 2015 PMID: 25525159
Mitochondrial dysfunction in mut methylmalonic acidemia. Chandler RJ FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2009 PMID: 19088183
Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes. Chandler RJ BMC medical genetics 2007 PMID: 17470278
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. Worgan LC Human mutation 2006 PMID: 16281286
Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. Martínez MA Molecular genetics and metabolism 2005 PMID: 15781192

Text-mined citations for rs1554160638...

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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 Oct 08, 2021