Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_020166.5(MCCC1):c.1315G>A (p.Val439Met)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 20, 2020
Accession:
VCV000095940.3
Variation ID:
95940
Description:
single nucleotide variant
Help

NM_020166.5(MCCC1):c.1315G>A (p.Val439Met)

Allele ID
101836
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q27.1
Genomic location
3: 183039088 (GRCh38) GRCh38 UCSC
3: 182756876 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q96RQ3:p.Val439Met
NC_000003.11:g.182756876C>T
NC_000003.12:g.183039088C>T
... more HGVS
Protein change
V439M, V330M, V322M
Other names
-
Canonical SPDI
NC_000003.12:183039087:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA285753
UniProtKB: Q96RQ3#VAR_072504
dbSNP: rs398124352
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 27, 2015 RCV000259066.1
Likely pathogenic 1 criteria provided, single submitter Sep 20, 2020 RCV000653496.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MCCC1 - - GRCh38
GRCh37
394 427

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 27, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000113926.8
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (2)
Other databases
http://www.egl-eurofins.com/emvc…
Likely pathogenic
(Sep 20, 2020)
criteria provided, single submitter
Method: clinical testing
3 Methylcrotonyl-CoA carboxylase 1 deficiency
Allele origin: germline
Invitae
Accession: SCV000775376.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces valine with methionine at codon 439 of the MCCC1 protein (p.Val439Met). The valine residue is highly conserved and there is a … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
[Genetic analysis of newborns with abnormal metabolism of 3-hydroxyisovalerylcarnitine]. Wu D Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2019 PMID: 31901042
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. Shepard PJ Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25356967
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Grünert SC Orphanet journal of rare diseases 2012 PMID: 22642865
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MCCC1 - - - -

Text-mined citations for rs398124352...

Help
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 Oct 16, 2021