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NM_032603.5(LOXL3):c.*892C>T

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 17, 2016)
Last evaluated:
Dec 17, 2016
Accession:
VCV000372209.1
Variation ID:
372209
Description:
single nucleotide variant
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NM_032603.5(LOXL3):c.*892C>T

Allele ID
359114
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p13.1
Genomic location
2: 74532714 (GRCh38) GRCh38 UCSC
2: 74759841 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.74759841G>A
NC_000002.12:g.74532714G>A
NM_032603.5:c.*892C>T MANE Select 3 prime UTR
... more HGVS
Protein change
R404Q
Other names
-
Canonical SPDI
NC_000002.12:74532713:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA1728592
OMIM: 606441.0004
dbSNP: rs767006508
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Dec 17, 2016 RCV000412669.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HTRA2 - - GRCh38
GRCh37
48 94
LOXL3 - - GRCh38
GRCh37
9 47

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 17, 2016)
no assertion criteria provided
Method: literature only
3-@METHYLGLUTACONIC ACIDURIA, TYPE VIII
Allele origin: germline
OMIM
Accession: SCV000490282.1
Submitted: (Dec 17, 2016)
Evidence details
Publications
PubMed (1)

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
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria. Mandel H Journal of medical genetics 2016 PMID: 27208207

Text-mined citations for rs767006508...

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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 Jan 16, 2021