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NM_000255.4(MMUT):c.1022dup (p.Asn341fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Nov 19, 2021)
Last evaluated:
Jan 18, 2020
Accession:
VCV000553958.8
Variation ID:
553958
Description:
1bp duplication
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NM_000255.4(MMUT):c.1022dup (p.Asn341fs)

Allele ID
544144
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
6p12.3
Genomic location
6: 49453645-49453646 (GRCh38) GRCh38 UCSC
6: 49421358-49421359 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.49421363dup
NC_000006.12:g.49453650dup
NG_007100.1:g.14494dup
... more HGVS
Protein change
N341fs
Other names
-
Canonical SPDI
NC_000006.12:49453645:TTTTT:TTTTTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs752898811
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, multiple submitters, no conflicts May 28, 2019 RCV000669504.6
Pathogenic 1 criteria provided, single submitter Nov 16, 2018 RCV000780494.1
Pathogenic 1 criteria provided, single submitter Jan 18, 2020 RCV001376592.1
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Pathogenic 1 no assertion criteria provided Sep 16, 2020 RCV001271711.1
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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
589 611

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 06, 2017)
criteria provided, single submitter
Method: clinical testing
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000794261.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(Nov 16, 2018)
criteria provided, single submitter
Method: clinical testing
Methylmalonic acidemia
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000917795.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: MUT c.1022dupA (p.Asn341LysfsX20) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Allele origin: unknown
Mendelics
Accession: SCV001137134.1
Submitted: (Oct 22, 2019)
Evidence details
Pathogenic
(Jan 18, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000947111.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Asn341Lysfs*20) in the MUT gene. It is expected to result in an absent or disrupted protein … (more)
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: SCV001453059.1
Submitted: (Dec 28, 2020)
Evidence details
Pathogenic
(Mar 22, 2021)
no assertion criteria provided
Method: clinical testing
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Allele origin: germline
PerkinElmer Genomics
Accession: SCV002017521.1
Submitted: (Nov 19, 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
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 rs752898811...

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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 28, 2021