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NM_000255.4(MMUT):c.1207C>G (p.Arg403Gly)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 3, 2020)
Last evaluated:
May 3, 2020
Accession:
VCV000522690.3
Variation ID:
522690
Description:
single nucleotide variant
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NM_000255.4(MMUT):c.1207C>G (p.Arg403Gly)

Allele ID
513283
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p12.3
Genomic location
6: 49451591 (GRCh38) GRCh38 UCSC
6: 49419304 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.49419304G>C
NC_000006.12:g.49451591G>C
NG_007100.1:g.16549C>G
NM_000255.4:c.1207C>G MANE Select NP_000246.2:p.Arg403Gly missense
Protein change
R403G
Other names
-
Canonical SPDI
NC_000006.12:49451590:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA3846942
dbSNP: rs727504020
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 May 3, 2020 RCV000625839.3
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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
589 611

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 03, 2020)
criteria provided, single submitter
Method: clinical testing
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Allele origin: unknown
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000746405.2
Submitted: (May 03, 2020)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs727504020...

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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 Sep 07, 2021