NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg) AND Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Clinical significance:Pathogenic (Last evaluated: Sep 16, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001276633.1

Allele description [Variation Report for NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)]

NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)

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.1867G>A (p.Gly623Arg)
HGVS:
  • NC_000006.12:g.49440295C>T
  • NG_007100.1:g.27845G>A
  • NM_000255.4:c.1867G>AMANE SELECT
  • NP_000246.2:p.Gly623Arg
  • NC_000006.11:g.49408008C>T
  • NM_000255.1:c.1867G>A
  • NP_000246.1:p.Gly623Arg
  • P22033:p.Gly623Arg
Protein change:
G623R; GLY623ARG
Links:
UniProtKB: P22033#VAR_004420; OMIM: 609058.0008; dbSNP: rs121918254
NCBI 1000 Genomes Browser:
rs121918254
Molecular consequence:
  • NM_000255.4:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001463085Natera, Inc.no assertion criteria providedPathogenic
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001463085.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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