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NM_002225.5(IVD):c.1179del (p.Leu394fs) AND Isovaleric acidemia, type III

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 1991
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002284192.1

Allele description [Variation Report for NM_002225.5(IVD):c.1179del (p.Leu394fs)]

NM_002225.5(IVD):c.1179del (p.Leu394fs)

Gene:
IVD:isovaleryl-CoA dehydrogenase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q15.1
Genomic location:
Preferred name:
NM_002225.5(IVD):c.1179del (p.Leu394fs)
HGVS:
  • NC_000015.10:g.40418170del
  • NC_000015.9:g.40710367del
  • NG_011986.2:g.17686del
  • NM_001159508.3:c.1089del
  • NM_001354597.3:c.1131del
  • NM_001354598.3:c.1138+1808del
  • NM_001354599.3:c.1266del
  • NM_001354600.3:c.1225+1808del
  • NM_001354601.3:c.1138+1808del
  • NM_002225.5:c.1179delMANE SELECT
  • NP_001152980.2:p.Leu364fs
  • NP_001341526.1:p.Leu378fs
  • NP_001341528.2:p.Leu423fs
  • NP_002216.3:p.Leu394fs
  • NC_000015.9:g.40710367del
  • NC_000015.9:g.40710369del
  • NC_000015.9:g.40710369delT
  • NM_002225.3:c.1188del
  • NM_002225.3:c.1188delT
Protein change:
L364fs
Links:
OMIM: 607036.0003; dbSNP: rs786204613
NCBI 1000 Genomes Browser:
rs786204613
Molecular consequence:
  • NM_001159508.3:c.1089del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354597.3:c.1131del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354599.3:c.1266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002225.5:c.1179del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354598.3:c.1138+1808del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354600.3:c.1225+1808del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354601.3:c.1138+1808del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Isovaleric acidemia, type III
Identifiers:
MedGen: C4017057

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000023910OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 1991) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.

Vockley J, Parimoo B, Tanaka K.

Am J Hum Genet. 1991 Jul;49(1):147-57.

PubMed [citation]
PMID:
2063866
PMCID:
PMC1683224

Details of each submission

From OMIM, SCV000023910.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with type III isovaleric acidemia (243500), Vockley et al. (1991) found deletion of 1 of a triplet of T residues at positions 1177 to 1179. This led to a frameshift that predicted the incorporation of 8 abnormal amino acids followed by a premature termination codon.

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

Last Updated: May 16, 2025