NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter) AND Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1

Clinical significance:Pathogenic (Last evaluated: Aug 26, 2008)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000020555.22

Allele description [Variation Report for NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter)]

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

Gene:
VLDLR:very low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p24.2
Genomic location:
Preferred name:
NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter)
HGVS:
  • NC_000009.12:g.2645603C>T
  • NG_012741.1:g.28811C>T
  • NM_001018056.3:c.1342C>T
  • NM_001322225.2:c.1219C>T
  • NM_001322226.2:c.1219C>T
  • NM_003383.5:c.1342C>TMANE SELECT
  • NP_001018066.1:p.Arg448Ter
  • NP_001309154.1:p.Arg407Ter
  • NP_001309155.1:p.Arg407Ter
  • NP_003374.3:p.Arg448Ter
  • NC_000009.11:g.2645603C>T
  • NM_003383.3:c.1342C>T
Protein change:
R407*; ARG448TER
Links:
OMIM: 192977.0004; dbSNP: rs80338905
NCBI 1000 Genomes Browser:
rs80338905
Molecular consequence:
  • NM_001018056.3:c.1342C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322225.2:c.1219C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322226.2:c.1219C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003383.5:c.1342C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 (CAMRQ1)
Synonyms:
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1; CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE; Cerebellar hypoplasia, VLDLR associated; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0024542; MedGen: C4551552; Orphanet: 1766; OMIM: 224050

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033232OMIMno assertion criteria providedPathogenic
(Feb 1, 2008)
germlineliterature only

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

SCV000041028GeneReviewsno assertion criteria providedpathologic
(Aug 26, 2008)
not providedcuration

Summary from all submissions

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

Citations

PubMed

Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.

Moheb LA, Tzschach A, Garshasbi M, Kahrizi K, Darvish H, Heshmati Y, Kordi A, Najmabadi H, Ropers HH, Kuss AW.

Eur J Hum Genet. 2008 Feb;16(2):270-3. Epub 2007 Nov 28.

PubMed [citation]
PMID:
18043714

Details of each submission

From OMIM, SCV000033232.1

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

Description

In affected members of a consanguineous Iranian family with congenital cerebellar ataxia and mental retardation (224050), Moheb et al. (2008) identified a homozygous 1342C-T transition in exon 10 of the VLDLR gene, resulting in an arg448-to-ter (R448X) substitution affecting both isoforms. Affected individuals had either no speech at all or spoke only a few words, and none could walk independently. Brain imaging was not performed.

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

From GeneReviews, SCV000041028.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Jun 14, 2021

Support Center