NM_000255.4(MMUT):c.982C>T (p.Leu328Phe) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Clinical significance:Likely pathogenic (Last evaluated: Apr 6, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000666436.3

Allele description [Variation Report for NM_000255.4(MMUT):c.982C>T (p.Leu328Phe)]

NM_000255.4(MMUT):c.982C>T (p.Leu328Phe)

Gene:
MMUT:methylmalonyl-CoA mutase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p12.3
Genomic location:
Preferred name:
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe)
HGVS:
  • NC_000006.12:g.49453686G>A
  • NG_007100.1:g.14454C>T
  • NM_000255.4:c.982C>TMANE SELECT
  • NP_000246.2:p.Leu328Phe
  • NC_000006.11:g.49421399G>A
  • NM_000255.3:c.982C>T
  • P22033:p.Leu328Phe
Protein change:
L328F
Links:
UniProtKB: P22033#VAR_022406; dbSNP: rs796052002
NCBI 1000 Genomes Browser:
rs796052002
Molecular consequence:
  • NM_000255.4:c.982C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Synonyms:
Methylmalonic aciduria, mut type; METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
Identifiers:
MONDO: MONDO:0009612; MedGen: C1855114; OMIM: 251000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000790728Counsylcriteria provided, single submitter
Likely pathogenic
(Apr 6, 2017)
unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations.

Dündar H, Özgül RK, Güzel-Ozantürk A, Dursun A, Sivri S, Aliefendioğlu D, Coşkun T, Tokatli A.

Mol Genet Metab. 2012 Aug;106(4):419-23. doi: 10.1016/j.ymgme.2012.05.014. Epub 2012 Jun 1.

PubMed [citation]
PMID:
22727635

Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.

Forny P, Froese DS, Suormala T, Yue WW, Baumgartner MR.

Hum Mutat. 2014 Dec;35(12):1449-58. doi: 10.1002/humu.22633.

PubMed [citation]
PMID:
25125334
PMCID:
PMC4441004
See all PubMed Citations (4)

Details of each submission

From Counsyl, SCV000790728.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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