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NM_002225.5(IVD):c.498del (p.Glu166fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 10, 2020
Accession:
VCV000094056.6
Variation ID:
94056
Description:
1bp deletion
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NM_002225.5(IVD):c.498del (p.Glu166fs)

Allele ID
99958
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
15q15.1
Genomic location
15: 40411301 (GRCh38) GRCh38 UCSC
15: 40703500 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_002225.3:c.507del
NC_000015.10:g.40411301del
NC_000015.9:g.40703500del
... more HGVS
Protein change
E136fs, E150fs, E166fs, E195fs
Other names
-
Canonical SPDI
NC_000015.10:40411300:G:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
The Genome Aggregation Database (gnomAD) 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA221937
dbSNP: rs398123684
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, multiple submitters, no conflicts Sep 10, 2020 RCV000178862.7
Pathogenic 1 criteria provided, single submitter Aug 21, 2013 RCV000790681.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
IVD - - GRCh38
GRCh37
369 380

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 21, 2013)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000231028.5
Submitted: (Jun 30, 2017)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Sep 10, 2020)
criteria provided, single submitter
Method: clinical testing
Isovaleryl-CoA dehydrogenase deficiency
Allele origin: germline
Invitae
Accession: SCV000631889.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Glu169Aspfs*11) in the IVD gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Isovaleryl-CoA dehydrogenase deficiency
Allele origin: germline
Baylor Genetics
Accession: SCV001163383.1
Submitted: (Sep 27, 2019)
Evidence details
Likely pathogenic
(Jan 02, 2014)
no assertion criteria provided
Method: clinical testing
Isovaleryl-CoA dehydrogenase deficiency
Allele origin: unknown
Counsyl
Accession: SCV001132235.1
Submitted: (Aug 05, 2019)
Evidence details

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
Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant. Bei F Gene 2013 PMID: 23587913
Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene. Vockley J American journal of human genetics 2000 PMID: 10677295
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=IVD - - - -

Text-mined citations for rs398123684...

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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 Nov 27, 2021