NM_020166.5(MCCC1):c.1595-1G>C AND 3 Methylcrotonyl-CoA carboxylase 1 deficiency

Clinical significance:Likely pathogenic (Last evaluated: Jul 9, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000807500.1

Allele description [Variation Report for NM_020166.5(MCCC1):c.1595-1G>C]

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

Gene:
MCCC1:methylcrotonyl-CoA carboxylase subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q27.1
Genomic location:
Preferred name:
NM_020166.5(MCCC1):c.1595-1G>C
HGVS:
  • NC_000003.12:g.183034078C>G
  • NG_008100.1:g.70500G>C
  • NM_001293273.2:c.1244-1G>C
  • NM_001363880.1:c.1268-1G>C
  • NM_020166.5:c.1595-1G>CMANE SELECT
  • NC_000003.11:g.182751866C>G
  • NM_020166.4:c.1595-1G>C
Links:
dbSNP: rs1337201010
NCBI 1000 Genomes Browser:
rs1337201010
Molecular consequence:
  • NM_001293273.2:c.1244-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001363880.1:c.1268-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_020166.5:c.1595-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
3 Methylcrotonyl-CoA carboxylase 1 deficiency (MCC1D)
Synonyms:
MCCD TYPE 1; METHYLCROTONYLGLYCINURIA TYPE I; MCC 1 deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008861; MedGen: C0268600; Orphanet: 6; OMIM: 210200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000947556Invitaecriteria provided, single submitter
Likely pathogenic
(Jul 9, 2018)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.

Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D.

J Clin Invest. 2001 Feb;107(4):495-504.

PubMed [citation]
PMID:
11181649
PMCID:
PMC199271

Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.

Baumgartner MR, Dantas MF, Suormala T, Almashanu S, Giunta C, Friebel D, Gebhardt B, Fowler B, Hoffmann GF, Baumgartner ER, Valle D.

Am J Hum Genet. 2004 Nov;75(5):790-800. Epub 2004 Sep 9.

PubMed [citation]
PMID:
15359379
PMCID:
PMC1182108
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV000947556.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

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 in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MCCC1-related disease. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MCCC1 are known to be pathogenic (PMID: 11181649, 15359379, 22642865). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 24, 2021

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