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NM_020166.5(MCCC1):c.1595-1G>C

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Jul 9, 2018
Accession:
VCV000652022.1
Variation ID:
652022
Description:
single nucleotide variant
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NM_020166.5(MCCC1):c.1595-1G>C

Allele ID
651041
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q27.1
Genomic location
3: 183034078 (GRCh38) GRCh38 UCSC
3: 182751866 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.182751866C>G
NC_000003.12:g.183034078C>G
NM_020166.5:c.1595-1G>C MANE Select splice acceptor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:183034077:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs1337201010
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 Jul 9, 2018 RCV000807500.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MCCC1 - - GRCh38
GRCh37
394 427

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 09, 2018)
criteria provided, single submitter
Method: clinical testing
3 Methylcrotonyl-CoA carboxylase 1 deficiency
Allele origin: germline
Invitae
Accession: SCV000947556.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change affects an acceptor splice site in intron 13 of the MCCC1 gene. It is expected to disrupt RNA splicing and likely results … (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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Title Author Journal Year Link
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Grünert SC Orphanet journal of rare diseases 2012 PMID: 22642865
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. Baumgartner MR American journal of human genetics 2004 PMID: 15359379
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. Baumgartner MR The Journal of clinical investigation 2001 PMID: 11181649

Text-mined citations for rs1337201010...

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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 Apr 18, 2021