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NM_000255.4(MMUT):c.654A>C (p.Gln218His)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jul 4, 2021)
Last evaluated:
Aug 1, 2021
Accession:
VCV000551243.7
Variation ID:
551243
Description:
single nucleotide variant
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NM_000255.4(MMUT):c.654A>C (p.Gln218His)

Allele ID
544153
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p12.3
Genomic location
6: 49457790 (GRCh38) GRCh38 UCSC
6: 49425503 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.49425503T>G
NC_000006.12:g.49457790T>G
NG_007100.1:g.10350A>C
NM_000255.4:c.654A>C MANE Select NP_000246.2:p.Gln218His missense
Protein change
Q218H
Other names
-
Canonical SPDI
NC_000006.12:49457789:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
The Genome Aggregation Database (gnomAD) 0.00001
Links
dbSNP: rs1446389693
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Mar 30, 2017 RCV000666245.1
Pathogenic 1 criteria provided, single submitter Aug 1, 2021 RCV001091102.2
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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
589 611

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 30, 2017)
criteria provided, single submitter
Method: clinical testing
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000790504.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (2)
Pathogenic
(Aug 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001246957.6
Submitted: (Jul 04, 2021)
Evidence details

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
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT. Forny P Human mutation 2016 PMID: 27167370
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency. Forny P Human mutation 2014 PMID: 25125334

Text-mined citations for rs1446389693...

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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 27, 2021