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NM_020166.5(MCCC1):c.1A>G (p.Met1Val)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Dec 18, 2018
Accession:
VCV000542951.2
Variation ID:
542951
Description:
single nucleotide variant
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NM_020166.5(MCCC1):c.1A>G (p.Met1Val)

Allele ID
519031
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q27.1
Genomic location
3: 183099440 (GRCh38) GRCh38 UCSC
3: 182817228 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.182817228T>C
NC_000003.12:g.183099440T>C
NG_008100.1:g.5138A>G
... more HGVS
Protein change
M1V
Other names
-
Canonical SPDI
NC_000003.12:183099439:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00003
Links
ClinGen: CA2719251
dbSNP: rs762463914
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 Dec 18, 2018 RCV000653495.2
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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
(Dec 18, 2018)
criteria provided, single submitter
Method: clinical testing
3 Methylcrotonyl-CoA carboxylase 1 deficiency
Allele origin: germline
Invitae
Accession: SCV000775375.2
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change affects the initiator methionine of the MCCC1 mRNA. The next in-frame methionine is located at codon 39. This variant is present in … (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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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 rs762463914...

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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 Oct 24, 2021