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NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 11, 2020)
Last evaluated:
Jan 9, 2020
Accession:
VCV000993879.1
Variation ID:
993879
Description:
single nucleotide variant
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NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg)

Allele ID
981533
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p12.3
Genomic location
6: 49451522 (GRCh38) GRCh38 UCSC
6: 49419235 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.12:g.49451522C>T
NC_000006.11:g.49419235C>T
NM_000255.4:c.1276G>A MANE Select NP_000246.2:p.Gly426Arg missense
NG_007100.1:g.16618G>A
Protein change
G426R
Other names
-
Canonical SPDI
NC_000006.12:49451521:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Jan 9, 2020 RCV001286063.1
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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
586 608

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 09, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001472583.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The MMUT c.1276G>A; p.Gly426Arg variant (rs769922244) is reported in the literature in at least one individual affected with methylmalonic aciduria (Worgan 2006). This variant is … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jan 30, 2021