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NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Jan 8, 2013)
Last evaluated:
Aug 26, 2008
Accession:
VCV000021381.1
Variation ID:
21381
Description:
single nucleotide variant
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NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter)

Allele ID
34233
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9p24.2
Genomic location
9: 2645603 (GRCh38) GRCh38 UCSC
9: 2645603 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.2645603C>T
NC_000009.12:g.2645603C>T
NM_003383.5:c.1342C>T MANE Select NP_003374.3:p.Arg448Ter nonsense
... more HGVS
Protein change
R448*, R407*
Other names
-
Canonical SPDI
NC_000009.12:2645602:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA342001
OMIM: 192977.0004
dbSNP: rs80338905
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 no assertion criteria provided Aug 26, 2008 RCV000020555.22
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
VLDLR - - GRCh38
GRCh37
230 447

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 01, 2008)
no assertion criteria provided
Method: literature only
CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE
Allele origin: germline
OMIM
Accession: SCV000033232.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
pathologic
(Aug 26, 2008)
no assertion criteria provided
Method: curation
VLDLR-Associated Cerebellar Hypoplasia
Allele origin: not provided
GeneReviews
Accession: SCV000041028.1
Submitted: (Jan 08, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.

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
<i>VLDLR</i> Cerebellar Hypoplasia Boycott KM - 2020 PMID: 20301729
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. Moheb LA European journal of human genetics : EJHG 2008 PMID: 18043714

Text-mined citations for rs80338905...

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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 Jun 14, 2021